Canonical Allele Identifier: PA2830146098
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 224687
ClinVar RCV Id: RCV000234678 RCV000726452 RCV002517430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg534Cys
CA2189454
NM_057165.5:c.1600C>T