ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236537
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366575.1:p.Glu722Lys
CA2208203
NM_001379646.1:c.2164G>A