Allele Registry

Canonical Allele Identifier: PA2499267130

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV001337257

RCV002546811

ClinVar Variation:

1034521

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg768Cys	CA2189434 NM_004369.4:c.2302C>T