ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000090
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Glu1250Asp
NM_007300.4:c.[3750del;3751dup]
NM_007300.4:c.3750G>C
NM_007300.4:c.3750G>T