ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689714
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462566
ClinVar RCV Id:
RCV000554416
RCV001193800
RCV002404415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile524Val
CA10598605
NM_007297.4:c.1570A>G