Allele Registry

Canonical Allele Identifier: PA645454645

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000282428

RCV001859687

ClinVar Variation:

288857

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr298Ile	CA2189757 NM_004369.4:c.893C>T