Allele Registry

Canonical Allele Identifier: PA2830147807

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000356761

RCV000546975

ClinVar Variation:

289755

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1467Ser	CA10606535 NM_057166.5:c.4399G>A