Canonical Allele Identifier: PA2830148513
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1302716
ClinVar RCV Id: RCV001762783

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2352Ser
CA2187424
NM_057166.5:c.7054G>T