Allele Registry

Canonical Allele Identifier: PA242461

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000176490

RCV002056950

ClinVar Variation:

195827

HGVS (amino-acid)	Matching Registered Transcripts
NP_001186326.1:p.Gln751Glu	CA242459 NM_001199397.1:c.2251C>G