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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:
PA915996312
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
818886
ClinVar RCV Id:
RCV001010930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala439Thr
CA10599422
NM_007300.4:c.1315G>A