Allele Registry

Canonical Allele Identifier: PA2830147827

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000489274

ClinVar Variation:

426588

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1476Val	CA351216598 NM_057166.5:c.4427G>T