ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828849430
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000559143
RCV000764396
RCV001002006
RCV002448687
ClinVar Variation:
464223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Ala1082Pro
CA2207853
NM_001379633.1:c.3244G>C