Canonical Allele Identifier: PA2830150720
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284096

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr2673Met
CA2187481
NM_057167.4:c.8018C>T