Allele Registry

Canonical Allele Identifier: PA645455418

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000306136

ClinVar Variation:

284682

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2059Cys	CA10604870 NM_004369.4:c.6175G>T