ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993959
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009230.2:p.Asp588Asn
NM_007299.4:c.1762G>A