Allele Registry

Canonical Allele Identifier: PA2830149374

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000364187

RCV001855209

ClinVar Variation:

288410

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Lys1075Glu	CA10606077 NM_057167.4:c.3223A>G