Canonical Allele Identifier: PA2830147796
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284796
ClinVar RCV Id: RCV000329760 RCV000653528
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Gly1458Arg
CA10604911
NM_057166.5:c.4372G>C