ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675819
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464220
ClinVar RCV Id:
RCV000554679
RCV001509205
RCV003403290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Arg827Cys
CA2208089
NM_001244008.2:c.2479C>T