Canonical Allele Identifier: PA2830145545
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425261
ClinVar RCV Id: RCV000821825 RCV000488005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Asp776Glu
CA2189146
NM_057164.5:c.2328C>G
CA351202123
NM_057164.5:c.2328C>A