Allele Registry

Canonical Allele Identifier: PA2830147722

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

266444

ClinVar RCV:

RCV000367029

RCV000653516

ClinVar Variation:

282207

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val1378Met	CA2188513 NM_057166.5:c.4132G>A