×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA601771361
Gene: DRD2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1261474245
gnomAD v2:
11-113346179-T-TC
gnomAD v3:
11-113475457-T-TC
gnomAD v4:
11-113475457-T-TC
MyVariant Identifiers:
chr11:g.113346179_113346180insC (hg19)
chr11:g.113475457_113475458insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475461dup , CM000673.2:g.113475461dup
GRCh38
NC_000011.9:g.113346183dup , CM000673.1:g.113346183dup
GRCh37
NC_000011.8:g.112851393dup
NCBI36
NG_008841.1:g.4822dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000540600.5:n.34+200dup
Search 100 bp 5'
Search 100 bp 3'