Canonical Allele Identifier: PA2830148370
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 500364
ClinVar RCV Id: RCV000594529 RCV001057134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val2186Ile
CA2187566
NM_057166.5:c.6556G>A