ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828865749
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000503848
RCV000823472
RCV001334234
RCV002323866
ClinVar Variation:
435633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Arg1406His
CA2207461
NM_001379642.1:c.4217G>A