Allele Registry

Canonical Allele Identifier: PA2830146757

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 335140

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ser114Leu	CA2189596 NM_057166.5:c.341C>T