ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848263
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377000
ClinVar RCV Id:
RCV000437574
RCV000527406
RCV000764389
RCV002328908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Arg1688His
CA2207179
NM_001379632.1:c.5063G>A