Canonical Allele Identifier: PA2830145364
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291124
ClinVar RCV Id: RCV000354464 RCV002518159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ala571Thr
CA2189291
NM_057164.5:c.1711G>A