Canonical Allele Identifier: PA2830145100
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198165
ClinVar RCV Id: RCV000179433 RCV002517751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Val243Ile
CA246674
NM_057164.5:c.727G>A