Canonical Allele Identifier: PA2830148515
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286480
ClinVar RCV Id: RCV000328502 RCV001088627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2357Val
CA2187420
NM_057166.5:c.7070C>T