ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826883681
Gene: IFT52
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290387.1:p.Pro330Leu
CA9867057
NM_001303458.2:c.989C>T