Allele Registry

Canonical Allele Identifier: PA2830150761

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

489539

ClinVar RCV:

RCV000592270

RCV001325100

ClinVar Variation:

498115

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro2726Ser	CA67830560 NM_057167.4:c.8176C>T