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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:
CA2001188738
Gene: DRD2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1951476155
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475469_113475486dup , CM000673.2:g.113475469_113475486dup
GRCh38
NC_000011.9:g.113346191_113346208dup , CM000673.1:g.113346191_113346208dup
GRCh37
NC_000011.8:g.112851401_112851418dup
NCBI36
NG_008841.1:g.4795_4812dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000540600.5:n.34+173_34+190dup
Search 100 bp 5'
Search 100 bp 3'