Canonical Allele Identifier: PA2830149705
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162548
ClinVar RCV Id: RCV000174100 RCV000350868 RCV000987066 RCV001719926 RCV002295283 RCV004551301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala1432Thr
CA200826
NM_057167.4:c.4294G>A