ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000335
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187559
ClinVar RCV Id:
RCV000167298
RCV001221048
RCV003477639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1292Pro
CA002497
NM_007300.4:c.3874T>C