ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828867795
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366574.1:p.Ser1598Phe
CA2207290
NM_001379645.1:c.4793C>T