ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580432570
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1941741
ClinVar RCV Id:
RCV002675703
RCV004066751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065851.1:p.Arg495Gln
CA355192065
NM_020800.3:c.1484G>A