Canonical Allele Identifier: PA2830150864
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284054
ClinVar RCV Id: RCV000339597 RCV001364006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Cys2854Trp
CA2187338
NM_057167.4:c.8562C>G