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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:
CA934300678
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1564913918
gnomAD v3:
11-640109-A-AGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
gnomAD v4:
11-640109-A-AGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640123_640170dup , CM000673.2:g.640123_640170dup
GRCh38
NC_000011.9:g.640123_640170dup , CM000673.1:g.640123_640170dup
GRCh37
NC_000011.8:g.630123_630170dup
NCBI36
NG_021241.1:g.7819_7866dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.874_921dup
MANE Select
ENSP00000176183.5:p.Gly307_Ser308insProAs...
ENST00000176183.5:c.874_921dup
ENSP00000176183.5:p.Gly307_Ser308insProAs...
NM_000797.3:c.874_921dup
NP_000788.2:p.Gly307_Ser308insProAspCysAl...
NM_000797.4:c.874_921dup
MANE Select
NP_000788.2:p.Gly307_Ser308insProAspCysAl...
Search 100 bp 5'
Search 100 bp 3'