Allele Registry

Canonical Allele Identifier: PA2830147198

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000392690

RCV000733500

RCV001087853

RCV002252099

ClinVar Variation:

335126

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val644Ile	CA2189083 NM_057166.5:c.1930G>A