ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827053160
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Lys782Glu
CA2208123
NM_001320705.2:c.2344A>G