Allele Registry

Canonical Allele Identifier: PA658817521

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000597773

RCV001206779

ClinVar Variation:

499309

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Asp1063Asn	CA2189224 NM_004369.4:c.3187G>A