Canonical Allele Identifier: PA2830146245
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288629
ClinVar RCV Id: RCV000332055 RCV000407262 RCV001209515 RCV002518047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala713Val
CA2189328
NM_057165.5:c.2138C>T