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
ENSP00000463826.2:p.Val283Leu
CA292012776
ENST00000585134.2:c.847G>C
CA400326353
ENST00000585134.2:c.847G>T