Canonical Allele Identifier: PA2830148705
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497851
ClinVar RCV Id: RCV000596437 RCV000653542
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg130Trp
CA2189729
NM_057167.4:c.388C>T