ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828858638
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000439719
RCV002328970
RCV002522361
ClinVar Variation:
387301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Ser1333Thr
CA2207456
NM_001379638.1:c.3997T>A