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_011508877.1:p.Thr2083Ser	CA351191910 XM_011510575.1:c.6248C>G CA351191912 XM_011510575.1:c.6247A>T