Canonical Allele Identifier: PA2830148540
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285190
ClinVar RCV Id: RCV000276298 RCV002521932
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Glu2395Gly
CA2187384
NM_057166.5:c.7184A>G