Allele Registry

Canonical Allele Identifier: PA645405923

Gene: CPLANE1 HGNC NCBI

ClinVar RCV:

RCV000245872

RCV000369776

RCV001568573

ClinVar Variation:

261671

HGVS (amino-acid)	Matching Registered Transcripts
NP_075561.3:p.Ser1468Cys	CA3238710 NM_023073.4:c.4403C>G