Allele Registry

Canonical Allele Identifier: PA2830149352

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000370349

RCV001068738

ClinVar Variation:

289573

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1046His	CA2189081 NM_057167.4:c.3137G>A