Allele Registry

Canonical Allele Identifier: PA2830147797

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268791

ClinVar RCV:

RCV000494333

RCV000817700

RCV002227468

ClinVar Variation:

284554

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Glu1460Lys	CA2188419 NM_057166.5:c.4378G>A