Allele Registry

Canonical Allele Identifier: PA645455426

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000489274

ClinVar Variation:

426588

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2083Val	CA351216598 NM_004369.4:c.6248G>T