Allele Registry

Canonical Allele Identifier: PA2830147543

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 193877

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ile1174Val	CA239566 NM_057166.5:c.3520A>G