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.Gln248His
CA400326503
NM_001165927.1:c.744G>T
CA400326504
NM_001165927.1:c.744G>C