ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829529279
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Leu1252Phe
CA68141179
NM_004321.8:c.3754C>T