ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827053264
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521695
ClinVar RCV Id:
RCV000623154
RCV000995793
RCV001069786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Arg878His
CA2207986
NM_001320705.2:c.2633G>A