ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828872719
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366578.1:p.Ser1439Phe
CA2207382
NM_001379649.1:c.4316C>T