Canonical Allele Identifier: PA2830148284
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128822
ClinVar RCV Id: RCV000116801 RCV000550052 RCV000515400 RCV004549582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2063Val
CA231053
NM_057166.5:c.6188C>T