Canonical Allele Identifier: PA2830145476
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166945
ClinVar RCV Id: RCV000153097 RCV001087811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg689His
CA233841
NM_057164.5:c.2066G>A