ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830132794
Gene: IFT122
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195780
ClinVar RCV Id:
RCV000194823
RCV000724440
RCV001086963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443715.1:p.Tyr917Asp
CA209252
NM_052989.3:c.2749T>G