Canonical Allele Identifier: PA2580306779
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989571
ClinVar RCV Id: RCV002786576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr2892_Thr2898dup
CA1043806476
NM_004369.4:c.8670_8690dup