Allele Registry

Canonical Allele Identifier: PA2830148106

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000559787

ClinVar Variation:

476555

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg1837Pro	CA351203731 NM_057166.5:c.5510G>C