Canonical Allele Identifier: PA2830149022
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288441
ClinVar RCV Id: RCV000291815 RCV000363927 RCV000653538 RCV003165760 RCV003488503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Gly510Asp
CA2189470
NM_057167.4:c.1529G>A