Allele Registry

Canonical Allele Identifier: PA2830147602

Gene: COL6A3 HGNC NCBI

ClinVar Variation Id: 498581

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Phe1245Ser	CA2188631 NM_057166.5:c.3734T>C