Canonical Allele Identifier: PA2830148593
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283406

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Tyr2463Cys
CA2187330
NM_057166.5:c.7388A>G