Allele Registry

Canonical Allele Identifier: PA2830148082

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274597

ClinVar RCV:

RCV000331230

ClinVar Variation:

290360

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1815Gly	CA10606750 NM_057166.5:c.5443C>G