ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827297044
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521233
ClinVar RCV Id:
RCV000622710
RCV001860437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Glu267Lys
CA351302716
NM_001330290.2:c.799G>A