Canonical Allele Identifier: PA2830148326
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476560
ClinVar RCV Id: RCV000539637 RCV003488694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg2127Gln
CA2187602
NM_057166.5:c.6380G>A