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
ENSP00000418986.2:p.Thr71Ile
ENST00000497488.2:c.[212del;213_214insC]
ENST00000497488.2:c.[212del;214G>A;215A>G...
ENST00000497488.2:c.[212del;214G>C;215A>G...
ENST00000497488.2:c.[212del;214G>T;215A>G...
ENST00000497488.2:c.212C>T