Allele Registry

Canonical Allele Identifier: PA2826337824

Gene: CEP57 HGNC NCBI

ClinVar Allele:

462036

ClinVar RCV:

RCV000525894

RCV003935493

ClinVar Variation:

472259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230706.1:p.Arg226His	CA6239561 NM_001243777.2:c.677G>A