Canonical Allele Identifier: PA645455117
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 290193
ClinVar RCV Id: RCV000341791 RCV002519336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1312Met
CA2189037
NM_004369.4:c.3934G>A