ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830133716
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283739
ClinVar RCV Id:
RCV000294633
RCV000794465
RCV002278283
RCV003278736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443716.1:p.Phe1053Ile
CA2606945
NM_052990.3:c.3157T>A