ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913193401
Gene: BARD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000456.2:p.Ser250Pro
CA2090385
NM_000465.4:c.748T>C