Canonical Allele Identifier: PA2830148868
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335139
ClinVar RCV Id: RCV000346069 RCV001239780 RCV004021805 RCV003137962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Thr319Met
CA2189591
NM_057167.4:c.956C>T