ClinGen Allele Registry
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Canonical Allele Identifier:
PA915985930
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245659
ClinVar RCV Id:
RCV000235739
RCV000268718
RCV000488190
RCV001080020
RCV002374387
RCV003939904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg99Cys
CA561996
NM_001265593.1:c.295C>T