ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828865638
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464239
ClinVar RCV Id:
RCV000550664
RCV001799678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Arg1293His
CA2207584
NM_001379642.1:c.3878G>A