ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826992691
Gene: INPP5E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365879
ClinVar RCV Id:
RCV000302693
RCV000489191
RCV001095320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305431.1:p.Pro576Arg
CA5336675
NM_001318502.2:c.1727C>G