Allele Registry

Canonical Allele Identifier: PA2830149887

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000360053

RCV001855157

RCV003278739

ClinVar Variation:

285695

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu1653Lys	CA10605207 NM_057167.4:c.4957G>A