Canonical Allele Identifier: PA645454645
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288857

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr298Ile
CA2189757
NM_004369.4:c.893C>T