ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139734443
Gene: INPP5E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_063945.2:p.Pro597Leu
CA5336667
NM_019892.6:c.1790C>T