ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828877343
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366582.1:p.Gln748Glu
CA2208136
NM_001379653.1:c.2242C>G