ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104613
Gene: INPP5E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_063945.2:p.Arg515Trp
CA259595
NM_019892.6:c.1543C>T