Allele Registry

Canonical Allele Identifier: PA916054324

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 285711

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg338Cys	CA10071631 NM_058175.3:c.1012C>T