ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996050
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Trp372Ter
NM_007300.4:c.[1110del;1113T>C;1115G>T]
NM_007300.4:c.[1110del;1113T>C;1115G>T;11...
NM_007300.4:c.1115G>A
NM_007300.4:c.1116G>A