ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828860398
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435633
ClinVar RCV Id:
RCV000503848
RCV000823472
RCV001334234
RCV002323866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366568.1:p.Arg1313His
CA2207461
NM_001379639.1:c.3938G>A