Allele Registry

Canonical Allele Identifier: PA2829528247

Gene: KIF1A HGNC NCBI

ClinVar RCV:

RCV000639774

RCV000727144

RCV001848863

ClinVar Variation:

432631

HGVS (amino-acid)	Matching Registered Transcripts
NP_004312.2:p.Gln748Glu	CA2208136 NM_004321.8:c.2242C>G