Canonical Allele Identifier: PA2830147939
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166939
ClinVar RCV Id: RCV000248266 RCV000354274 RCV000653606 RCV001706017 RCV002514950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1644Trp
CA233825
NM_057166.5:c.4930C>T