ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718761
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Lys598Ile
CA10591318
NM_007299.4:c.1793A>T