Canonical Allele Identifier: PA2830146527
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285636
ClinVar RCV Id: RCV000365975 RCV001064513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg1046Cys
CA2189082
NM_057165.5:c.3136C>T