ClinGen Allele Registry
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Canonical Allele Identifier:
PA201469
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_065682.2:p.Glu722_Glu723del
CA2695253119
NM_020631.6:c.2165_2170del