Canonical Allele Identifier: PA2830150269
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284586
ClinVar RCV Id: RCV000286359 RCV000538135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly2094Arg
CA2188030
NM_057167.4:c.6280G>A
CA351208372
NM_057167.4:c.6280G>C