Allele Registry

Canonical Allele Identifier: PA2830147797

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 284554

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu1460Lys	CA2188419 NM_057166.5:c.4378G>A