Allele Registry

Canonical Allele Identifier: PA2830150363

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000331230

ClinVar Variation:

290360

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg2216Gly	CA10606750 NM_057167.4:c.6646C>G