ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830132931
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_443715.1:p.Phe1163Ile
CA2606945
NM_052989.3:c.3487T>A