Allele Registry

Canonical Allele Identifier: PA2830150003

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

266444

ClinVar RCV:

RCV000367029

RCV000653516

ClinVar Variation:

282207

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Val1779Met	CA2188513 NM_057167.4:c.5335G>A