ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828848432
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989188
ClinVar RCV Id:
RCV001391592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Ser69Trp
CA351310990
NM_001379633.1:c.206C>G