Allele Registry

Canonical Allele Identifier: PA2830147090

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 290337

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala517Val	CA2189180 NM_057166.5:c.1550C>T