Canonical Allele Identifier: PA2830147495
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 17154
ClinVar RCV Id: RCV003764592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Leu1119Arg
CA257718
NM_057166.5:c.3356T>G