Allele Registry

Canonical Allele Identifier: PA916053777

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000384051

RCV000686574

RCV000731144

ClinVar Variation:

335132

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg858Trp	CA2189222 NM_057167.4:c.2572C>T