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_011508876.1:p.Thr630Ser	CA351215410 XM_011510574.1:c.1889C>G CA351215412 XM_011510574.1:c.1888A>T