Allele Registry

Canonical Allele Identifier: PA2830149823

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 193877

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ile1575Val	CA239566 NM_057167.4:c.4723A>G