Canonical Allele Identifier: PA645434462
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283689
ClinVar RCV Id: RCV000276018 RCV000553120 RCV001139298
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg933His
CA10073026
NM_001849.4:c.2798G>A