ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828859049
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001906265
ClinVar Variation:
1401299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Lys1696Arg
CA2207089
NM_001379638.1:c.5087A>G