Canonical Allele Identifier: PA2830148438
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284096
ClinVar RCV Id: RCV000312116 RCV000558809 RCV000725390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Thr2272Met
CA2187481
NM_057166.5:c.6815C>T