ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000343
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1293Val
CA002501
NM_007300.4:c.3878C>T