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
ENSP00000295550.4:p.Phe597Leu	CA2189556 ENST00000295550.9:c.1791C>A CA351216814 ENST00000295550.9:c.1791C>G CA351216827 ENST00000295550.9:c.1789T>C