Canonical Allele Identifier: PA916053680
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 286169
ClinVar RCV Id: RCV000285182 RCV001855167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg969Trp
CA2188823
NM_057166.5:c.2905C>T