Allele Registry

Canonical Allele Identifier: PA658817715

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

489698

ClinVar RCV:

RCV000594165

RCV000726810

ClinVar Variation:

498274

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2267Ser	CA2188081 NM_004369.4:c.6799G>A