Allele Registry

Canonical Allele Identifier: PA645455423

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396169

RCV000485229

ClinVar Variation:

287817

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2071Asp	CA10605883 NM_004369.4:c.6212G>A