Canonical Allele Identifier: PA2830148194
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 192260
ClinVar RCV Id: RCV000172848 RCV000699713 RCV001198487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala1947Thr
CA200139
NM_057166.5:c.5839G>A