Canonical Allele Identifier: PA2830148707
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284965
ClinVar RCV Id: RCV000313136 RCV001139348 RCV001859611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg135His
CA2189721
NM_057167.4:c.404G>A