Canonical Allele Identifier: PA2828866950
Gene: KIF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 432631
ClinVar RCV Id: RCV000639774 RCV000727144 RCV001848863
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366574.1:p.Gln748Glu
CA2208136
NM_001379645.1:c.2242C>G