Canonical Allele Identifier: PA2829991887
Gene: ITM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 5979
ClinVar RCV Id: RCV000006345
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068839.1:p.Ser266_Ter267insArgThrValLysLysAsnIleIleGluGluAsn
CA117883
NM_021999.5:c.799T>A
CA388252296
NM_021999.5:c.799T>C