ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826992489
Gene: INPP5E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217661
ClinVar RCV Id:
RCV000201735
RCV001267700
RCV001775666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305431.1:p.Gly341Ser
CA277795
NM_001318502.2:c.1021G>A