ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825417353
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1348233
ClinVar RCV Id:
RCV002033306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036130.1:p.Arg544Cys
CA17236649
NM_001042665.1:c.1630C>T