ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212637
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162060
ClinVar RCV Id:
RCV000149482
RCV000374842
RCV000624110
RCV000850514
RCV001197350
RCV001334240
RCV001847781
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Arg316Trp
CA212636
NM_001244008.2:c.946C>T