Allele Registry

Canonical Allele Identifier: PA2499295604

Gene: COL6A2 HGNC NCBI

ClinVar Variation Id: 1049390

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Ser685Leu	CA321972637 NM_058175.3:c.2054C>T