Canonical Allele Identifier: PA2830146084
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283049

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Tyr521Ser
CA2189462
NM_057165.5:c.1562A>C