ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830132472
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283378
ClinVar RCV Id:
RCV000399070
RCV000945510
RCV001582907
RCV003278735
RCV003939973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Ile206Thr
CA2605932
NM_052989.3:c.617T>C