ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249627
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu143Lys
CA002745
NM_007294.4:c.427G>A