Allele Registry

Canonical Allele Identifier: PA2830147112

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000405233

RCV000689188

RCV000725525

ClinVar Variation:

284774

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg542Trp	CA2189167 NM_057166.5:c.1624C>T