ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996926
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile571Lys
CA10598603
NM_007300.4:c.1712T>A