ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992678
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu750Pro
CA003718
NM_007298.3:c.2249T>C