Allele Registry

Canonical Allele Identifier: PA2830147421

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 210751

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Pro1023Ser	CA209210 NM_057166.5:c.3067C>T