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: COL6A2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000312529.5:p.Phe687Leu	CA410541371 ENST00000310645.9:c.2059T>C CA410541379 ENST00000310645.9:c.2061C>G CA410541381 ENST00000310645.9:c.2061C>A