ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580182953
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Glu512del
CA2580611390
NM_001265593.1:c.1535_1537del