Canonical Allele Identifier: PA2830148625
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283257
ClinVar RCV Id: RCV000329137 RCV000795886 RCV004547678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2513Pro
CA2187284
NM_057166.5:c.7537A>C