This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503999.1:p.[Pro510_Ser511insLeuGluProTrp;Gly512_Leu514delinsProSerSerGlnGlnProTrpProThr;Ser516delinsGlnGluAspLysMetGlyAspIle]
CA2838231695
ENST00000676787.1:c.1530del