ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828845016
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Pro718Leu
CA2208207
NM_001379631.1:c.2153C>T