Allele Registry

Canonical Allele Identifier: PA2827294171

Gene: KIF1A HGNC NCBI

ClinVar RCV:

RCV000191021

RCV000207040

RCV000997715

RCV003223396

ClinVar Variation:

208161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317218.1:p.Arg216His	CA204977 NM_001330289.2:c.647G>A