ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826992645
Gene: INPP5E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305431.1:p.Gly521Ala
CA5336724
NM_001318502.2:c.1562G>C