ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825416639
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843557
ClinVar RCV Id:
RCV001046210
RCV002429616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036129.1:p.Glu717Lys
CA561242
NM_001042664.1:c.2149G>A