Allele Registry

Canonical Allele Identifier: PA645432758

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

266712

ClinVar RCV:

RCV000368110

RCV000764266

RCV001045882

ClinVar Variation:

282475

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val57Ile	CA10071224 NM_001849.4:c.169G>A