Allele Registry

Canonical Allele Identifier: PA2830146477

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 198791

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val991Ile	CA247620 NM_057165.5:c.2971G>A