ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827296520
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401299
ClinVar RCV Id:
RCV001906265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Lys1697Arg
CA2207089
NM_001330289.2:c.5090A>G