Canonical Allele Identifier: PA2830150783
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2417385
ClinVar RCV Id: RCV003114854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro2748His
CA351191206
NM_057167.4:c.8243C>A