Allele Registry

Canonical Allele Identifier: PA2828512009

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000176490

RCV002056950

ClinVar Variation:

195827

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361349.1:p.Gln706Glu	CA242459 NM_001374420.1:c.2116C>G