Canonical Allele Identifier: PA2830149243
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476515
ClinVar RCV Id: RCV000538546 RCV001358776 RCV002526736 RCV003144372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala785Val
CA2189278
NM_057167.4:c.2354C>T