Canonical Allele Identifier: PA645455524
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286480
ClinVar RCV Id: RCV000328502 RCV001088627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2964Val
CA2187420
NM_004369.4:c.8891C>T