ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829710254
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Gln60Lys
CA10601806
NM_007299.4:c.178C>A