ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828846048
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
653055
ClinVar RCV Id:
RCV000808746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Gln83Leu
CA351310687
NM_001379632.1:c.248A>T