Canonical Allele Identifier: PA2830148233
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284791
ClinVar RCV Id: RCV000265030 RCV001068819 RCV001141187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2004Val
CA2187688
NM_057166.5:c.6011C>T