ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828853595
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447657
ClinVar RCV Id:
RCV000517273
RCV000639790
RCV000718224
RCV000764391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366564.1:p.Arg1593Gln
CA2207239
NM_001379635.1:c.4778G>A