Allele Registry

Canonical Allele Identifier: PA1139756365

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV001215835

ClinVar Variation:

945243

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly268Val	CA410524590 NM_058175.3:c.803G>T