Allele Registry

Canonical Allele Identifier: PA2830147043

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274174

ClinVar RCV:

RCV000653597

RCV000726400

RCV000765645

RCV001136882

ClinVar Variation:

289937

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg468Trp	CA2189211 NM_057166.5:c.1402C>T