ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830133531
Gene: IFT122
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Tyr833Cys
CA2606669
NM_052990.3:c.2498A>G