Allele Registry

Canonical Allele Identifier: PA222654

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100883

ClinVar RCV:

RCV000282178

RCV000657932

RCV000987061

RCV002051806

ClinVar Variation:

94983

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg2420Trp	CA222652 NM_004369.4:c.7258C>T