Allele Registry

Canonical Allele Identifier: PA241444

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000724735

RCV001084510

ClinVar Variation:

195152

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val8Met	CA241442 NM_001849.4:c.22G>A