Canonical Allele Identifier: PA2830147840
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288924
ClinVar RCV Id: RCV000290353 RCV000653544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Arg1490Trp
CA2188357
NM_057166.5:c.4468C>T