ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476408
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282386
ClinVar RCV Id:
RCV000282862
RCV000547693
RCV000725080
RCV001848050
RCV003989518
RCV004021106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Ala1723Val
CA2207161
NM_001244008.2:c.5168C>T