Allele Registry

Canonical Allele Identifier: PA645455535

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

268186

ClinVar RCV:

RCV000356914

RCV001242146

RCV003165732

ClinVar Variation:

283949

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val3044Ile	CA2187351 NM_004369.4:c.9130G>A