Canonical Allele Identifier: PA2830148721
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335143
ClinVar RCV Id: RCV000345761 RCV001235361 RCV003144227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala149Thr
CA2189718
NM_057167.4:c.445G>A