Canonical Allele Identifier: PA104613
Gene: INPP5E HGNC NCBI
ClinVar Allele:
15436
ClinVar RCV:
RCV000022402
RCV001851510
ClinVar Variation:
397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_063945.2:p.Arg515Trp
CA259595
NM_019892.6:c.1543C>T