Allele Registry

Canonical Allele Identifier: PA2830148233

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269028

ClinVar RCV:

RCV000265030

RCV001068819

RCV001141187

ClinVar Variation:

284791

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2004Val	CA2187688 NM_057166.5:c.6011C>T