Allele Registry

Canonical Allele Identifier: PA2830150747

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000707162

RCV000726172

ClinVar Variation:

288504

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2709Val	CA2187451 NM_057167.4:c.8126C>T