ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580366052
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2064438
ClinVar RCV Id:
RCV002953415
RCV003157838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val487Ile
CA10599127
NM_007300.4:c.1459G>A