Canonical Allele Identifier: PA2830151808
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290662
ClinVar RCV Id: RCV000334369 RCV000810817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Glu182Gly
CA10071333
NM_058174.3:c.545A>G