ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828864442
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1521480
ClinVar RCV Id:
RCV002046310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Val73Ala
CA351310899
NM_001379642.1:c.218T>C