ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992266
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala992Val
CA10595751
NM_007297.4:c.2975C>T