Canonical Allele Identifier: PA2830148781
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94904
ClinVar RCV Id: RCV000080909 RCV000373285 RCV000544484 RCV002295281 RCV004549506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val216Met
CA147906
NM_057167.4:c.646G>A