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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:
CA2001188704
Gene: DRD2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475423_113475432delinsCGAGCGCGGG , CM000673.2:g.113475423_113475432delinsCGAGCGCGGG
GRCh38
NC_000011.9:g.113346145_113346154delinsCGAGCGCGGG , CM000673.1:g.113346145_113346154delinsCGAGCGCGGG
GRCh37
NC_000011.8:g.112851355_112851364delinsCGAGCGCGGG
NCBI36
NG_008841.1:g.4848_4857delinsCCCGCGCTCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000540600.5:n.34+226_34+235delinsCCCGCGCTCG
Search 100 bp 5'
Search 100 bp 3'