ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827053828
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Ser1439Phe
CA2207382
NM_001320705.2:c.4316C>T