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: COL6A3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006712316.1:p.Leu2630Phe	CA351194806 XM_006712253.1:c.7890A>T CA351194807 XM_006712253.1:c.7890A>C