Allele Registry

Canonical Allele Identifier: PA2830147938

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 195970

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro1643Leu	CA242694 NM_057166.5:c.4928C>T