Canonical Allele Identifier: PA916053763
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288419
ClinVar RCV Id: RCV000372216 RCV000527253 RCV000765646 RCV004549607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly813Arg
CA2189266
NM_057167.4:c.2437G>A
CA351206708
NM_057167.4:c.2437G>C