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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:
CA1947202256
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1858202313
gnomAD v4:
11-640325-GGGCGGGGAGGAGA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640328_640340del , CM000673.2:g.640328_640340del
GRCh38
NC_000011.9:g.640328_640340del , CM000673.1:g.640328_640340del
GRCh37
NC_000011.8:g.630328_630340del
NCBI36
NG_021241.1:g.8024_8036del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+22_1057+34del
MANE Select
ENSP00000176183.5:n.1057+22_1057+34del
ENST00000176183.5:c.1057+22_1057+34del
ENSP00000176183.5:n.1057+22_1057+34del
NM_000797.3:c.1057+22_1057+34del
NP_000788.2:n.1057+22_1057+34del
NM_000797.4:c.1057+22_1057+34del
MANE Select
NP_000788.2:n.1057+22_1057+34del
Search 100 bp 5'
Search 100 bp 3'