ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828868087
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989190
ClinVar RCV Id:
RCV001391595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366575.1:p.Gly78Arg
CA351310814
NM_001379646.1:c.232G>C