Canonical Allele Identifier: PA2830152369
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2182910
ClinVar RCV Id: RCV002611087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Thr670Ile
CA410539779
NM_058174.3:c.2009C>T