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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:
PA2579983655
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
868860
ClinVar RCV Id:
RCV001077846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1646Leu
CA10591653
NM_007294.4:c.4936G>C