Canonical Allele Identifier: PA2830145520
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198793
ClinVar RCV Id: RCV000180244 RCV000653624 RCV001697128 RCV001143453 RCV002516813 RCV004553022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg742Gln
CA247626
NM_057164.5:c.2225G>A