ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828848295
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245691
ClinVar RCV Id:
RCV000236433
RCV000691779
RCV002338768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Ala1715Thr
CA10584187
NM_001379632.1:c.5143G>A