ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828851554
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245736
ClinVar RCV Id:
RCV000235597
RCV001069303
RCV002327155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366563.1:p.Val1375Met
CA10584188
NM_001379634.1:c.4123G>A