Canonical Allele Identifier: PA916053736
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285050
ClinVar RCV Id: RCV000300486 RCV000311736 RCV000725577 RCV000820873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Ala53Val
CA2189778
NM_057167.4:c.158C>T