Canonical Allele Identifier: PA212619
Gene: KIF1A HGNC NCBI
ClinVar Allele:
171778
ClinVar RCV:
RCV000149476
ClinVar Variation:
162054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230937.1:p.Val144Phe
CA212618
NM_001244008.2:c.430G>T