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.Cys449Trp
CA251777
ENST00000676787.1:c.1347T>G
CA2580573370
ENST00000676787.1:c.[1347T>G;986_988del]