Allele Registry

Canonical Allele Identifier: PA645455070

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000259898

RCV000274489

RCV000653619

RCV003165744

ClinVar Variation:

285464

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val1069Met	CA2189216 NM_004369.4:c.3205G>A