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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:
CA653248830
Gene:
Linked Data
COSMIC:
COSN26037061
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.111236646dup , CM000671.2:g.111236646dup
GRCh38
NC_000009.11:g.113998926dup , CM000671.1:g.113998926dup
GRCh37
NC_000009.10:g.113038747dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930247.1:n.476+36172dup
XR_930248.1:n.556+36172dup
XR_930249.1:n.476+36172dup
XR_001746893.1:n.476+36172dup
XR_001746894.1:n.476+36172dup
XR_930247.2:n.476+36172dup
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