Allele Registry

Canonical Allele Identifier: PA2830150121

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000290353

RCV000653544

ClinVar Variation:

288924

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1891Trp	CA2188357 NM_057167.4:c.5671C>T