Allele Registry

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: SC5D HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000376539.2:p.His209Gln	CA383030057 ENST00000392789.2:c.627T>A CA383030058 ENST00000392789.2:c.627T>G