ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689965
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466890
ClinVar RCV:
RCV000556281
RCV003157689
ClinVar Variation:
462568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala558Glu
CA10598389
NM_007297.4:c.1673C>A