Canonical Allele Identifier: PA2830145217
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501043
ClinVar RCV Id: RCV000597915 RCV001243630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala377Thr
CA2189423
NM_057164.5:c.1129G>A