ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830133593
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Ala901Pro
CA2606760
NM_052990.3:c.2701G>C