Canonical Allele Identifier: PA2830150727
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399982
ClinVar RCV Id: RCV001917961 RCV002555615
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr2681Ile
CA2187471
NM_057167.4:c.8042C>T