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
NP_001020127.1:p.Leu246Phe	CA383030570 NM_001024956.3:c.738G>T CA383030571 NM_001024956.3:c.738G>C