ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645494638
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_065682.2:p.Arg30Cys
CA561996
NM_020631.6:c.88C>T