Canonical Allele Identifier: PA2830150736
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501551
ClinVar RCV Id: RCV000592234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ile2694Val
CA351191824
NM_057167.4:c.8080A>G