ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828864044
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447654
ClinVar RCV Id:
RCV000518018
RCV003766929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366570.1:p.Glu1418Lys
CA2207388
NM_001379641.1:c.4252G>A