Allele Registry

Canonical Allele Identifier: PA2830147803

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396169

RCV000485229

ClinVar Variation:

287817

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1464Asp	CA10605883 NM_057166.5:c.4391G>A