Allele Registry

Canonical Allele Identifier: PA2830147250

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 542954

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Asn704Ser	CA2189041 NM_057166.5:c.2111A>G