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: DEGS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000316476.4:p.Trp45Cys
CA344708573
ENST00000323699.9:c.135G>C
CA344708575
ENST00000323699.9:c.135G>T