Canonical Allele Identifier: PA2830148662
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282891
ClinVar RCV Id: RCV000375535 RCV000280523 RCV000443634 RCV004547673 RCV001089085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Met2568Thr
CA2187232
NM_057166.5:c.7703T>C