ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076582
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000551400
RCV002341322
RCV004546516
ClinVar Variation:
464258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Arg1721Cys
CA351298557
NM_001379631.1:c.5161C>T