ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828868380
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373642
ClinVar RCV Id:
RCV000414618
RCV000543471
RCV000679891
RCV001391607
RCV002221151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366575.1:p.Arg316Gln
CA16042465
NM_001379646.1:c.947G>A