Allele Registry

Canonical Allele Identifier: PA2828874575

Gene: KIF1A HGNC NCBI

ClinVar Allele:

206961

ClinVar RCV:

RCV000192849

RCV000766570

RCV001088066

RCV001847864

RCV004020320

ClinVar Variation:

211290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366579.1:p.Ser1493Leu	CA205958 NM_001379650.1:c.4478C>T