ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828851337
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447653
ClinVar RCV Id:
RCV001143455
RCV000764394
RCV000530899
RCV002455993
RCV001544962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366563.1:p.Pro1160Leu
CA2207702
NM_001379634.1:c.3479C>T