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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:
CA1214007251
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.188414251_188414253delinsGTC , CM000663.2:g.188414251_188414253delinsGTC
GRCh38
NC_000001.10:g.188383382_188383384delinsGTC , CM000663.1:g.188383382_188383384delinsGTC
GRCh37
NC_000001.9:g.186650005_186650007delinsGTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'