Allele Registry

Canonical Allele Identifier: PA916054017

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000306725

RCV002519342

ClinVar Variation:

290526

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Glu32Lys	CA10071176 NM_058175.3:c.94G>A