Allele Registry

Canonical Allele Identifier: PA2830148762

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 288401

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Pro197Leu	CA2189684 NM_057167.4:c.590C>T