Canonical Allele Identifier: PA645433048
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 283039
ClinVar RCV Id: RCV000372608 RCV001070638 RCV001143206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg149His
CA10071293
NM_001849.4:c.446G>A