Allele Registry

Canonical Allele Identifier: PA2830146029

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 282683

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg453Cys	CA2189504 NM_057165.5:c.1357C>T