ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997571
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496352
ClinVar RCV Id:
RCV000588733
RCV002222188
RCV003157726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser716Thr
CA10597710
NM_007300.4:c.2147G>C