Allele Registry

Canonical Allele Identifier: PA2830150924

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 430200

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu2943Lys	CA2187271 NM_057167.4:c.8827G>A