Allele Registry

Canonical Allele Identifier: PA2830150074

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000541035

ClinVar Variation:

476545

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1855Gln	CA2188423 NM_057167.4:c.5564G>A