Canonical Allele Identifier: PA2830149933
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542964
ClinVar RCV Id: RCV000653513 RCV002536303 RCV003144450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro1691Leu
CA2188604
NM_057167.4:c.5072C>T