Canonical Allele Identifier: PA916053835
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_476508.2:p.Arg943Gln
CA247626
NM_057167.4:c.2828G>A