ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827195506
Gene: IFT52
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310509.1:p.Val130Ile
CA9867032
NM_001323580.2:c.388G>A