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
ENSP00000418285.1:p.Leu2190Phe	CA351194806 ENST00000472056.5:c.6570A>T CA351194807 ENST00000472056.5:c.6570A>C