ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826992526
Gene: INPP5E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365888
ClinVar RCV Id:
RCV000303395
RCV001408981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305431.1:p.Arg379Lys
CA5336941
NM_001318502.2:c.1136G>A