ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828848655
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245636
ClinVar RCV Id:
RCV000236491
RCV000763486
RCV000623278
RCV000995795
RCV001857794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Arg254Trp
CA10584198
NM_001379633.1:c.760C>T