ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828857401
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2578901
ClinVar RCV Id:
RCV003327077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Cys92Tyr
CA351310429
NM_001379638.1:c.275G>A