Allele Registry

Canonical Allele Identifier: PA242460

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000176490

RCV002056950

ClinVar Variation:

195827

HGVS (amino-acid)	Matching Registered Transcripts
NP_036356.1:p.Gln723Glu	CA242459 NM_012224.4:c.2167C>G