ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828865762
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387301
ClinVar RCV Id:
RCV000439719
RCV002328970
RCV002522361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Ser1417Thr
CA2207456
NM_001379642.1:c.4249T>A