ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825415668
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2290907
ClinVar RCV Id:
RCV002859445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036128.2:p.Glu594Lys
CA17236571
NM_001042663.3:c.1780G>A