ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658820236
Gene: IFT80
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065851.1:p.Gln720Lys
CA2684949
NM_020800.3:c.2158C>A