Canonical Allele Identifier: PA2830148435
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285998
ClinVar RCV Id: RCV000289268 RCV000350575 RCV000687574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2271Ala
CA2187486
NM_057166.5:c.6811A>G