ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711541
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Tyr196Phe
CA10600947
NM_007299.4:c.587A>T