Canonical Allele Identifier: PA916053676
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288838
ClinVar RCV Id: RCV000342827 RCV001365801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ser959Leu
CA2188830
NM_057166.5:c.2876C>T