Allele Registry

Canonical Allele Identifier: PA2830150071

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000306136

ClinVar Variation:

284682

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly1853Cys	CA10604870 NM_057167.4:c.5557G>T