Canonical Allele Identifier: PA2828875220
Gene: KIF1A HGNC NCBI
ClinVar RCV:
RCV000030681
ClinVar Variation:
37004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366580.1:p.Arg350Gly
CA130024
NM_001379651.1:c.1048C>G