ClinGen Allele Registry
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Canonical Allele Identifier:
PA233387
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009230.2:p.Glu386Ter
NM_007299.4:c.[1155del;1157A>T;1159C>A]
NM_007299.4:c.[1155del;1157A>T;1159C>G]
NM_007299.4:c.1156G>T