ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848232
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498890
ClinVar RCV Id:
RCV000596825
RCV000639794
RCV002341520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Arg1664Gln
CA2207229
NM_001379632.1:c.4991G>A