Allele Registry

Canonical Allele Identifier: PA2830150616

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 288944

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu2540Lys	CA2187593 NM_057167.4:c.7618G>A