Canonical Allele Identifier: PA2830147915
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476548
ClinVar RCV Id: RCV000534801 RCV003159938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1598Thr
CA2188172
NM_057166.5:c.4792C>A