Allele Registry

Canonical Allele Identifier: PA658663199

Gene: CEP57 HGNC NCBI

ClinVar Allele:

462036

ClinVar RCV:

RCV000525894

RCV003935493

ClinVar Variation:

472259

HGVS (amino-acid)	Matching Registered Transcripts
NP_055494.2:p.Arg226His	CA6239561 NM_014679.5:c.677G>A