Allele Registry

Canonical Allele Identifier: PA2826337552

Gene: CEP57 HGNC NCBI

ClinVar RCV:

RCV000171200

RCV001331874

ClinVar Variation:

191025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230706.1:p.Arg30Pro	CA235845 NM_001243777.2:c.89G>C