Canonical Allele Identifier: PA233843
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166945
ClinVar RCV Id: RCV000153097 RCV001087811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Arg1096His
CA233841
NM_004369.4:c.3287G>A