Canonical Allele Identifier: PA2830148236
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 452370
ClinVar RCV Id: RCV000732252 RCV001078607 RCV002525235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp2008Asn
CA2187682
NM_057166.5:c.6022G>A