Allele Registry

Canonical Allele Identifier: PA645434353

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

272804

ClinVar RCV:

RCV000694478

RCV000726187

RCV001270045

RCV002519307

ClinVar Variation:

288567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ala875Thr	CA10072954 NM_001849.4:c.2623G>A