Allele Registry

Canonical Allele Identifier: PA2830148662

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000280523

RCV000375535

RCV000443634

RCV001089085

RCV004547673

ClinVar Variation:

282891

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Met2568Thr	CA2187232 NM_057166.5:c.7703T>C