Allele Registry

Canonical Allele Identifier: PA645455420

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000329760

RCV000653528

ClinVar Variation:

284796

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2065Arg	CA10604911 NM_004369.4:c.6193G>C