ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997013
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186563
ClinVar RCV Id:
RCV000166178
RCV000697218
RCV000989902
RCV001358638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser592Asn
CA001156
NM_007300.4:c.1775G>A