ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449837
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233926
ClinVar RCV Id:
RCV000216079
RCV001306990
RCV001544574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val990Ala
CA058187
NM_007294.4:c.2969T>C