ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694590
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln1400Lys
CA002774
NM_007297.4:c.4198C>A