ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828847551
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435628
ClinVar RCV Id:
RCV000502828
RCV000556446
RCV002280122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Ser1018Leu
CA2207901
NM_001379632.1:c.3053C>T