Allele Registry

Canonical Allele Identifier: PA916043858

Gene: CEP57 HGNC NCBI

ClinVar RCV:

RCV000171200

RCV001331874

ClinVar Variation:

191025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350533.1:p.Arg3Pro	CA235845 NM_001363604.2:c.8G>C