Canonical Allele Identifier: PA916053828
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289131

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr934Met
CA2189174
NM_057167.4:c.2801C>T