ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828850083
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464258
ClinVar RCV Id:
RCV000551400
RCV002341322
RCV004546516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Arg1687Cys
CA351298557
NM_001379633.1:c.5059C>T