Allele Registry

Canonical Allele Identifier: PA916054118

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000302508

RCV000341130

RCV000386408

RCV001086405

ClinVar Variation:

282463

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Val190Met	CA10071340 NM_058175.3:c.568G>A