ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997047
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54354
ClinVar RCV Id:
RCV000111688
RCV003157337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile600Met
CA001170
NM_007300.4:c.1800C>G