ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829943600
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1711205
ClinVar RCV Id:
RCV002292721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065682.2:p.Glu708dup
CA2580611387
NM_020631.6:c.2124_2126dup