ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448383
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009225.1:p.Lys338Glu
NM_007294.4:c.1012A>G