Canonical Allele Identifier: PA916053683
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476528
ClinVar RCV Id: RCV000530753 RCV002274066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr974Arg
CA351192223
NM_057166.5:c.2921C>G