ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580215234
Gene: IFT52
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310509.1:p.Arg96Trp
CA9867011
NM_001323580.2:c.286C>T