ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449089
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009225.1:p.Leu758Ter
NM_007294.4:c.[2273del;2275C>A]
NM_007294.4:c.2273T>A