ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580182979
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786279
ClinVar RCV Id:
RCV002417656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Glu777del
CA2580611386
NM_001265593.1:c.2331_2333del