ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476316
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_001230937.1:p.Ser1417Thr
CA2207456
NM_001244008.2:c.4249T>A