Canonical Allele Identifier: PA2830148504
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2417385
ClinVar RCV Id: RCV003114854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro2347His
CA351191206
NM_057166.5:c.7040C>A