Allele Registry

Canonical Allele Identifier: PA1139722010

Gene: KIF1A HGNC NCBI

ClinVar RCV:

RCV001267513

RCV003156334

RCV004017814

ClinVar Variation:

986214

HGVS (amino-acid)	Matching Registered Transcripts
NP_004312.2:p.Leu249Pro	CA351303238 NM_004321.8:c.746T>C