Allele Registry

Canonical Allele Identifier: PA2828511248

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000492346

RCV002521864

ClinVar Variation:

266054

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361347.1:p.Ser1047Leu	CA3137229 NM_001374418.1:c.3140C>T