Allele Registry

Canonical Allele Identifier: PA658820236

Gene: IFT80 HGNC NCBI

ClinVar RCV:

RCV000593105

RCV000764474

RCV001085371

ClinVar Variation:

501586

HGVS (amino-acid)	Matching Registered Transcripts
NP_065851.1:p.Gln720Lys	CA2684949 NM_020800.3:c.2158C>A