Canonical Allele Identifier: PA2826992681
Gene: INPP5E HGNC NCBI
ClinVar RCV:
RCV000022403
ClinVar Variation:
398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305431.1:p.Arg562His
CA259596
NM_001318502.2:c.1685G>A