Allele Registry

Canonical Allele Identifier: PA2830150238

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000594165

RCV000726810

ClinVar Variation:

498274

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly2061Ser	CA2188081 NM_057167.4:c.6181G>A