Allele Registry

Canonical Allele Identifier: PA658817780

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000591870

RCV001217460

ClinVar Variation:

499332

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2627Thr	CA2187669 NM_004369.4:c.7879G>A