Allele Registry

Canonical Allele Identifier: PA916054414

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000383351

RCV000537812

ClinVar Variation:

288611

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Glu450Gln	CA10071841 NM_058175.3:c.1348G>C