Allele Registry

Canonical Allele Identifier: PA298483

Gene: BARD1 HGNC NCBI

ClinVar Allele:

179946

ClinVar RCV:

RCV000220702

RCV000586005

RCV000800753

ClinVar Variation:

182055

HGVS (amino-acid)	Matching Registered Transcripts
NP_000456.2:p.Val750Ile	CA298482 NM_000465.4:c.2248G>A