Canonical Allele Identifier: PA2830148446
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399982
ClinVar RCV Id: RCV001917961 RCV002555615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2280Ile
CA2187471
NM_057166.5:c.6839C>T