Allele Registry

Canonical Allele Identifier: PA2830150259

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000311114

ClinVar Variation:

162552

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly2085Trp	CA295317 NM_057167.4:c.6253G>T