Canonical Allele Identifier: PA2830149350
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335126
ClinVar RCV Id: RCV000392690 RCV000733500 RCV001087853 RCV002252099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Val1045Ile
CA2189083
NM_057167.4:c.3133G>A