ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828865205
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554679
RCV001509205
RCV003403290
ClinVar Variation:
464220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Arg818Cys
CA2208089
NM_001379642.1:c.2452C>T