Canonical Allele Identifier: PA2830148249
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499332
ClinVar RCV Id: RCV000591870 RCV001217460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2020Thr
CA2187669
NM_057166.5:c.6058G>A