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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:
CA916940435
Gene:
Linked Data
dbSNP Id:
rs1575948483
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.84431966_84431967del , CM000665.2:g.84431966_84431967del
GRCh38
NC_000003.11:g.84481117_84481118del , CM000665.1:g.84481117_84481118del
GRCh37
NC_000003.10:g.84563807_84563808del
NCBI36
Search 100 bp 5'
Search 100 bp 3'