ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689661
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
68993
ClinVar RCV:
RCV000577732
RCV003157335
ClinVar Variation:
54326
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn517His
CA001109
NM_007297.4:c.1549A>C