Canonical Allele Identifier: PA2826992525
Gene: INPP5E HGNC NCBI

Linked Data

ClinVar Variation Id: 400
ClinVar RCV Id: RCV000022405 RCV000636941 RCV000735369 RCV001267543 RCV001550720 RCV002265543 RCV004532266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305431.1:p.Arg378Cys
CA259598
NM_001318502.2:c.1132C>T