Allele Registry

Canonical Allele Identifier: PA2830150656

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000593637

RCV001216322

ClinVar Variation:

499043

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Val2592Ala	CA2187562 NM_057167.4:c.7775T>C