ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828854542
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366565.1:p.Thr777Met
CA2208118
NM_001379636.1:c.2330C>T