Canonical Allele Identifier: PA2830147819
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 520883
ClinVar RCV Id: RCV000623881 RCV001860425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1473Arg
CA351216634
NM_057166.5:c.4417G>C