Allele Registry

Canonical Allele Identifier: PA2830147249

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000180600

RCV000803816

ClinVar Variation:

199093

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg701Gln	CA248099 NM_057166.5:c.2102G>A