Allele Registry

Canonical Allele Identifier: PA2830146127

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

172218

ClinVar RCV:

RCV000371027

RCV000727373

RCV000804572

ClinVar Variation:

162554

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ala563Thr	CA295323 NM_057165.5:c.1687G>A