Allele Registry

Canonical Allele Identifier: PA645455550

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000494209

RCV001326535

RCV002524044

ClinVar Variation:

430200

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Glu3149Lys	CA2187271 NM_004369.4:c.9445G>A