ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996654
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000571829
RCV000792382
ClinVar Variation:
482935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro514Thr
CA10598972
NM_007300.4:c.1540C>A