Allele Registry

Canonical Allele Identifier: PA2830147977

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 162551

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1683Cys	CA295314 NM_057166.5:c.5047C>T