Allele Registry

Canonical Allele Identifier: PA2830147454

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

32188

ClinVar RCV:

RCV000018689

RCV000790696

RCV003764588

ClinVar Variation:

17149

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1072Glu	CA239569 NM_057166.5:c.3215G>A