Canonical Allele Identifier: PA2830150821
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_476508.2:p.Glu2796Gly
CA2187384
NM_057167.4:c.8387A>G