Allele Registry

Canonical Allele Identifier: PA2830146550

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

260862

ClinVar RCV:

RCV000256486

RCV000291174

RCV000498501

ClinVar Variation:

266039

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val1076Met	CA2189061 NM_057165.5:c.3226G>A