Canonical Allele Identifier: PA2830145822
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283279
ClinVar RCV Id: RCV000294221 RCV000308759 RCV000984978 RCV001052126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg200Cys
CA2189681
NM_057165.5:c.598C>T