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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:
CA942381893
Gene: DRD2
HGNC
NCBI
Linked Data
gnomAD v3:
11-113475466-CTGAGA-C
gnomAD v4:
11-113475466-CTGAGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475467_113475471del , CM000673.2:g.113475467_113475471del
GRCh38
NC_000011.9:g.113346189_113346193del , CM000673.1:g.113346189_113346193del
GRCh37
NC_000011.8:g.112851399_112851403del
NCBI36
NG_008841.1:g.4809_4813del
Transcript Alleles
HGVS
Amino-acid change
ENST00000540600.5:n.34+187_34+191del
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Search 100 bp 3'