Canonical Allele Identifier: PA2830150943
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282891
ClinVar RCV Id: RCV000375535 RCV000280523 RCV000443634 RCV004547673 RCV001089085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Met2969Thr
CA2187232
NM_057167.4:c.8906T>C