ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828852998
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_001366564.1:p.Ala1024Pro
CA2207853
NM_001379635.1:c.3070G>C