Canonical Allele Identifier: PA2830148365
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288385
ClinVar RCV Id: RCV000330793 RCV000820442 RCV000735335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Ala2180Thr
CA2187571
NM_057166.5:c.6538G>A