Allele Registry

Canonical Allele Identifier: PA2828981219

Gene: CPLANE1 HGNC NCBI

ClinVar RCV:

RCV000420402

RCV001089959

RCV002481329

ClinVar Variation:

389974

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371661.1:p.Val489Phe	CA3239096 NM_001384732.1:c.1465G>T