Allele Registry

Canonical Allele Identifier: PA2830147034

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000384051

RCV000686574

RCV000731144

ClinVar Variation:

335132

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg457Trp	CA2189222 NM_057166.5:c.1369C>T