ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848267
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435626
ClinVar RCV Id:
RCV000504511
RCV000639776
RCV002266975
RCV002341186
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Val1690Met
CA2207177
NM_001379632.1:c.5068G>A