ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828857033
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246058
ClinVar RCV Id:
RCV000236455
RCV000639783
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366566.1:p.His1494Tyr
CA2207344
NM_001379637.1:c.4480C>T