ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828868843
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425262
ClinVar RCV Id:
RCV000488364
RCV000793899
RCV001262976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366575.1:p.Arg1139Trp
CA2207730
NM_001379646.1:c.3415C>T