Allele Registry

Canonical Allele Identifier: PA2830148376

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000593637

RCV001216322

ClinVar Variation:

499043

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val2191Ala	CA2187562 NM_057166.5:c.6572T>C