Allele Registry

Canonical Allele Identifier: PA2830147242

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

272635

ClinVar RCV:

RCV000367618

RCV000388800

RCV000815769

ClinVar Variation:

288398

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg694Trp	CA501184 NM_057166.5:c.2080C>T