ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190947
Gene: BARD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000456.2:p.Gln100Ter
NM_000465.4:c.298C>T