Allele Registry

Canonical Allele Identifier: PA094119

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000080939

RCV000558864

RCV001082187

RCV001143351

ClinVar Variation:

94934

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Asn1467Asp	CA222606 NM_004369.4:c.4399A>G