Allele Registry

Canonical Allele Identifier: PA645455090

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269011

ClinVar RCV:

RCV000405233

RCV000689188

RCV000725525

ClinVar Variation:

284774

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Arg1149Trp	CA2189167 NM_004369.4:c.3445C>T