Allele Registry

Canonical Allele Identifier: PA2830152106

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

273100

ClinVar RCV:

RCV000349190

RCV000794402

ClinVar Variation:

288863

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Pro449Arg	CA10606252 NM_058174.3:c.1346C>G