Canonical Allele Identifier: PA2828850128
Gene: KIF1A HGNC NCBI
ClinVar RCV:
RCV001991196
ClinVar Variation:
1480109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366562.1:p.Lys1729Gln
CA351297869
NM_001379633.1:c.5185A>C