ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827296151
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000437823
RCV000544072
RCV001848743
RCV002338983
RCV004544732
ClinVar Variation:
377242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Arg1508Trp
CA2207302
NM_001330289.2:c.4522C>T