ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825416590
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
60780
ClinVar RCV Id:
RCV000054547
RCV001039170
RCV001507927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036129.1:p.Thr663Met
CA144680
NM_001042664.1:c.1988C>T