Canonical Allele Identifier: PA2830147048
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335131
ClinVar RCV Id: RCV000369073 RCV002523125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Glu472Lys
CA2189207
NM_057166.5:c.1414G>A