Allele Registry

Canonical Allele Identifier: PA2828981378

Gene: CPLANE1 HGNC NCBI

ClinVar RCV:

RCV000174951

RCV000611123

ClinVar Variation:

194561

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371661.1:p.Ser875Phe	CA240601 NM_001384732.1:c.2624C>T