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
ENSP00000417554.2:p.Ser397Ter
ENST00000476777.6:c.[1190del;1191dup]
ENST00000476777.6:c.[1190del;1192C>A]
ENST00000476777.6:c.[1190del;1192C>G]
ENST00000476777.6:c.1190C>A
ENST00000476777.6:c.1190C>G
