Allele Registry

Canonical Allele Identifier: PA916054617

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 195956

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Thr731Met	CA242680 NM_058175.3:c.2192C>T