ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826992567
Gene: INPP5E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375472
ClinVar RCV Id:
RCV000416989
RCV003989529
RCV001861469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305431.1:p.Arg434Trp
CA5336846
NM_001318502.2:c.1300C>T