ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828853308
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444559
ClinVar RCV Id:
RCV000513173
RCV000805967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366564.1:p.Arg1344His
CA2207465
NM_001379635.1:c.4031G>A