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
NP_001159399.1:p.Glu249Asp	CA400326495 NM_001165927.1:c.747G>T CA400326496 NM_001165927.1:c.747G>C