ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000317
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Glu1287Lys
NM_007300.4:c.3859G>A