ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: BRCA1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000419988.1:p.Lys313Ter
ENST00000477152.5:c.[930del;932A>G;938A>T...
ENST00000477152.5:c.[930del;932A>G;938A>T...
ENST00000477152.5:c.937A>T