Allele Registry

Canonical Allele Identifier: PA2827282494

Gene: CACNB2 HGNC NCBI

ClinVar RCV:

RCV000170867

RCV002453580

ClinVar Variation:

190725

HGVS (amino-acid)	Matching Registered Transcripts
NP_001316989.1:p.Phe344Leu	CA301842 NM_001330060.2:c.1032C>A CA376069990 NM_001330060.2:c.1030T>C CA376070006 NM_001330060.2:c.1032C>G