ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828864135
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377242
ClinVar RCV Id:
RCV000437823
RCV000544072
RCV002338983
RCV001848743
RCV004544732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366570.1:p.Arg1490Trp
CA2207302
NM_001379641.1:c.4468C>T