Allele Registry

Canonical Allele Identifier: PA2830150796

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

270717

ClinVar RCV:

RCV000328502

RCV001088627

ClinVar Variation:

286480

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2758Val	CA2187420 NM_057167.4:c.8273C>T