ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139745316
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Glu1684Lys
CA2207236
NM_001379631.1:c.5050G>A