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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:
CA2602870968
Gene: DRD2
HGNC
NCBI
Linked Data
gnomAD v3:
11-113475457-T-TGC
gnomAD v4:
11-113475457-T-TGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475457_113475458insGC , CM000673.2:g.113475457_113475458insGC
GRCh38
NC_000011.9:g.113346179_113346180insGC , CM000673.1:g.113346179_113346180insGC
GRCh37
NC_000011.8:g.112851389_112851390insGC
NCBI36
NG_008841.1:g.4822_4823insGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000540600.5:n.34+200_34+201insGC
Search 100 bp 5'
Search 100 bp 3'