Allele Registry

Canonical Allele Identifier: PA2830148643

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000494209

RCV001326535

RCV002524044

ClinVar Variation:

430200

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu2542Lys	CA2187271 NM_057166.5:c.7624G>A