Allele Registry

Canonical Allele Identifier: PA2828512619

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000981694

RCV003950226

ClinVar Variation:

348120

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361351.1:p.Tyr229Cys	CA3137975 NM_001374422.1:c.686A>G