Allele Registry

Canonical Allele Identifier: PA645455068

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000384051

RCV000686574

RCV000731144

ClinVar Variation:

335132

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1064Trp	CA2189222 NM_004369.4:c.3190C>T