Allele Registry

Canonical Allele Identifier: PA2830150108

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000489274

ClinVar Variation:

426588

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly1877Val	CA351216598 NM_057167.4:c.5630G>T