Canonical Allele Identifier: PA2830149028
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283049
ClinVar RCV Id: RCV000286708 RCV001246875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Tyr521Ser
CA2189462
NM_057167.4:c.1562A>C