ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829716476
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001077398
ClinVar Variation:
868487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ala683Asp
CA10590562
NM_007299.4:c.2048C>A