ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829709076
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ala5Val
CA10602130
NM_007299.4:c.14C>T