Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000504282.1:p.Val14Leu	CA400328179 ENST00000677111.1:c.40G>T CA400328180 ENST00000677111.1:c.40G>C