Canonical Allele Identifier: PA2830148568
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288613

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2432Met
CA2187357
NM_057166.5:c.7295C>T