ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828849197
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464221
ClinVar RCV Id:
RCV000528565
RCV001848937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Arg818His
CA2208088
NM_001379633.1:c.2453G>A