Canonical Allele Identifier: PA2830148078
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94983
ClinVar RCV Id: RCV000282178 RCV000657932 RCV000987061 RCV002051806
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1813Trp
CA222652
NM_057166.5:c.5437C>T