Canonical Allele Identifier: PA2830146127
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162554
ClinVar RCV Id: RCV000371027 RCV000727373 RCV000804572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Ala563Thr
CA295323
NM_057165.5:c.1687G>A