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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:
CA5785986
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs778516673
ExAC:
11:640448 C / T
gnomAD v2:
11-640448-C-T
gnomAD v4:
11-640448-C-T
MyVariant Identifiers:
chr11:g.640448C>T (hg19)
chr11:g.640448C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640448C>T , CM000673.2:g.640448C>T
GRCh38
NC_000011.9:g.640448C>T , CM000673.1:g.640448C>T
GRCh37
NC_000011.8:g.630448C>T
NCBI36
NG_021241.1:g.8144C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1105C>T
MANE Select
ENSP00000176183.5:p.Gln369Ter
ENST00000176183.5:c.1105C>T
ENSP00000176183.5:p.Gln369Ter
NM_000797.3:c.1105C>T
NP_000788.2:p.Gln369Ter
NM_000797.4:c.1105C>T
MANE Select
NP_000788.2:p.Gln369Ter
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