ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828867912
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246594
ClinVar RCV Id:
RCV000236246
RCV001302199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366574.1:p.Arg1692Gln
CA2207175
NM_001379645.1:c.5075G>A