Allele Registry

Canonical Allele Identifier: PA2830146579

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000341791

RCV002519336

ClinVar Variation:

290193

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val1106Met	CA2189037 NM_057165.5:c.3316G>A