Allele Registry

Canonical Allele Identifier: PA916053788

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000653597

RCV000726400

RCV000765645

RCV001136882

ClinVar Variation:

289937

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg869Trp	CA2189211 NM_057167.4:c.2605C>T