ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825417171
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2283595
ClinVar RCV Id:
RCV002844868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036130.1:p.Thr347Met
CA338132711
NM_001042665.1:c.1040C>T