ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828869248
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000437823
RCV000544072
RCV001848743
RCV002338983
RCV004544732
ClinVar Variation:
377242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366575.1:p.Arg1532Trp
CA2207302
NM_001379646.1:c.4594C>T