Allele Registry

Canonical Allele Identifier: PA2830147337

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100829

ClinVar RCV:

RCV000080934

RCV000362566

RCV000417628

RCV001079176

RCV002298466

RCV002483144

ClinVar Variation:

94929

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg788Gln	CA147959 NM_057166.5:c.2363G>A