Allele Registry

Canonical Allele Identifier: PA645454692

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000263531

RCV001312761

ClinVar Variation:

283237

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg363Cys	CA2189712 NM_004369.4:c.1087C>T