Allele Registry

Canonical Allele Identifier: PA239662

Gene: CPLANE1 HGNC NCBI

ClinVar Allele:

191091

ClinVar RCV:

RCV000325656

RCV000724006

RCV001193382

ClinVar Variation:

193928

HGVS (amino-acid)	Matching Registered Transcripts
NP_075561.3:p.Asp486Asn	CA239661 NM_023073.4:c.1456G>A