Allele Registry

Canonical Allele Identifier: PA916054243

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000591727

RCV000657920

ClinVar Variation:

289114

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Gly283Glu	CA10606332 NM_058175.3:c.848G>A