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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA5785911
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs564667137
ExAC:
11:640341 A / AG
gnomAD v2:
11-640341-A-AG
gnomAD v3:
11-640341-A-AG
gnomAD v4:
11-640341-A-AG
MyVariant Identifiers:
chr11:g.640344_640345insG (hg19)
chr11:g.640342_640343insG (hg19)
chr11:g.640341_640342insG (hg19)
chr11:g.640342_640343insG (hg38)
chr11:g.640341_640342insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640350dup , CM000673.2:g.640350dup
GRCh38
NC_000011.9:g.640350dup , CM000673.1:g.640350dup
GRCh37
NC_000011.8:g.630350dup
NCBI36
NG_021241.1:g.8046dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+44dup
MANE Select
ENSP00000176183.5:n.1057+44dup
ENST00000176183.5:c.1057+44dup
ENSP00000176183.5:n.1057+44dup
NM_000797.3:c.1057+44dup
NP_000788.2:n.1057+44dup
NM_000797.4:c.1057+44dup
MANE Select
NP_000788.2:n.1057+44dup
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