ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828847419
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522643
ClinVar RCV Id:
RCV000625782
RCV001855323
RCV003129946
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Arg848Gln
CA351323373
NM_001379632.1:c.2543G>A