Allele Registry

Canonical Allele Identifier: PA916054210

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000179391

ClinVar Variation:

198136

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly271Asp	CA275346 NM_058175.3:c.812G>A