Canonical Allele Identifier: PA2830148242
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285313
ClinVar RCV Id: RCV000333005 RCV001087869 RCV001141186 RCV004547695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asp2010Asn
CA2187679
NM_057166.5:c.6028G>A