ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076563
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246058
ClinVar RCV Id:
RCV000236455
RCV000639783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.His1595Tyr
CA2207344
NM_001379631.1:c.4783C>T