Canonical Allele Identifier: PA2830148344
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284967
ClinVar RCV Id: RCV000401683 RCV001138189 RCV001360027 RCV003372676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg2150Thr
CA2187585
NM_057166.5:c.6449G>C