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
ENSP00000376827.2:p.Asp71Glu
CA346867
ENST00000393119.7:c.213C>G
CA400327796
ENST00000393119.7:c.213C>A