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
NP_001159399.1:p.Ser549_Ter550insTyrLeuThrAlaAlaLeuAlaHisSerAlaArgGlyGlnAspGlyGlyTyrLeuArgProValLeuSerCysLeuPheValPheLeuIleArgAspHisValGlyLeuLeuArgThrArgLysAlaGlyLysPheProAlaGlyProSerAla
CA400324151
NM_001165927.1:c.1650G>T
CA400324152
NM_001165927.1:c.1650G>C