Canonical Allele Identifier: PA2830145122
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 501183
ClinVar RCV Id: RCV000595749 RCV000687632 RCV004553335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Arg270Cys
CA2189493
NM_057164.5:c.808C>T