ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828860084
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464223
ClinVar RCV Id:
RCV000764396
RCV000559143
RCV002448687
RCV001002006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366568.1:p.Ala990Pro
CA2207853
NM_001379639.1:c.2968G>C