Allele Registry

Canonical Allele Identifier: PA645433264

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000349190

RCV000794402

ClinVar Variation:

288863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Pro449Arg	CA10606252 NM_001849.4:c.1346C>G