Canonical Allele Identifier: PA2830146041
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_476506.3:p.Arg471Cys
CA2189493
NM_057165.5:c.1411C>T