ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499266886
Gene: KIF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001329211
ClinVar Variation:
1028217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Ser217Phe
CA351304762
NM_004321.8:c.650C>T