Canonical Allele Identifier: PA2830148282
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 95000
ClinVar RCV Id: RCV000081005 RCV001324707 RCV002514422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2063Thr
CA222664
NM_057166.5:c.6187G>A