Canonical Allele Identifier: PA2830148132
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476556
ClinVar RCV Id: RCV000536751 RCV004024370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Val1861Ile
CA2187808
NM_057166.5:c.5581G>A