Allele Registry

Canonical Allele Identifier: PA658677056

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450539

ClinVar RCV:

RCV000532702

RCV002223227

ClinVar Variation:

476553

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2419Ala	CA351204205 NM_004369.4:c.7256G>C