Allele Registry

Canonical Allele Identifier: PA658676851

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

443195

ClinVar RCV:

RCV000523100

RCV001141519

RCV001297709

ClinVar Variation:

452912

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala1502Thr	CA67816612 NM_004369.4:c.4504G>A