ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828851694
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236455
RCV000639783
ClinVar Variation:
246058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366563.1:p.His1512Tyr
CA2207344
NM_001379634.1:c.4534C>T