ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996930
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554416
RCV001193800
RCV002404415
ClinVar Variation:
462566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile571Val
CA10598605
NM_007300.4:c.1711A>G