ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829843104
Gene: IFT52
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057088.2:p.Arg272Trp
CA9867011
NM_016004.5:c.814C>T