Allele Registry

Canonical Allele Identifier: PA645455427

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000290353

RCV000653544

ClinVar Variation:

288924

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg2097Trp	CA2188357 NM_004369.4:c.6289C>T