Allele Registry

Canonical Allele Identifier: PA2830150924

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000494209

RCV001326535

RCV002524044

ClinVar Variation:

430200

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu2943Lys	CA2187271 NM_057167.4:c.8827G>A