ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828848431
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188057
ClinVar RCV Id:
RCV000167867
RCV000693147
RCV001078152
RCV000762334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Ser69Leu
CA346824
NM_001379633.1:c.206C>T