Allele Registry

Canonical Allele Identifier: PA2828858591

Gene: KIF1A HGNC NCBI

ClinVar Allele:

518079

ClinVar RCV:

RCV000639796

RCV002325243

ClinVar Variation:

532872

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366567.1:p.Glu1290Lys	CA68141126 NM_001379638.1:c.3868G>A