ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573190316
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1348233
ClinVar RCV Id:
RCV002033306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg613Cys
CA17236649
NM_001265593.1:c.1837C>T