Allele Registry

Canonical Allele Identifier: PA2830147790

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000306136

ClinVar Variation:

284682

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1452Cys	CA10604870 NM_057166.5:c.4354G>T