Allele Registry

Canonical Allele Identifier: PA645455294

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

270406

ClinVar RCV:

RCV000285182

RCV001855167

ClinVar Variation:

286169

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1576Trp	CA2188823 NM_004369.4:c.4726C>T