Allele Registry

Canonical Allele Identifier: PA658663201

Gene: CEP57 HGNC NCBI

ClinVar RCV:

RCV000538321

ClinVar Variation:

472260

HGVS (amino-acid)	Matching Registered Transcripts
NP_055494.2:p.Pro251Ser	CA6239585 NM_014679.5:c.751C>T