ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000158
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55007
ClinVar RCV Id:
RCV000112187
RCV001315047
RCV001762163
RCV003157375
RCV001818227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1262Leu
CA002441
NM_007300.4:c.3785C>T