Allele Registry

Canonical Allele Identifier: PA2828512531

Gene: NEK1 HGNC NCBI

ClinVar RCV:

RCV000280616

RCV000602867

ClinVar Variation:

348090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361350.1:p.Asp1047Asn	CA3137116 NM_001374421.1:c.3139G>A