Canonical Allele Identifier: PA2830149641
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286912
ClinVar RCV Id: RCV000542185 RCV000389638 RCV002519269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala1354Thr
CA2188838
NM_057167.4:c.4060G>A