Canonical Allele Identifier: PA166430
Gene: BRCA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_009225.1:p.Glu1250Asp
NM_007294.4:c.[3750del;3751dup]

NM_007294.4:c.3750G>C

NM_007294.4:c.3750G>T