ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825416629
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194977
ClinVar RCV Id:
RCV000175470
RCV000544028
RCV001657947
RCV003965263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036129.1:p.Glu722_Glu723del
CA2695253119
NM_001042664.1:c.2165_2170del