Canonical Allele Identifier: PA2830145785
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283237
ClinVar RCV Id: RCV000263531 RCV001312761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476506.3:p.Arg157Cys
CA2189712
NM_057165.5:c.469C>T