ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826156732
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406217
ClinVar RCV Id:
RCV000465513
RCV000515813
RCV001803759
RCV003942476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177171.1:p.Thr228Ala
CA2685255
NM_001190242.2:c.682A>G