Allele Registry

Canonical Allele Identifier: PA2830148540

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000276298

RCV002521932

ClinVar Variation:

285190

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu2395Gly	CA2187384 NM_057166.5:c.7184A>G