ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915985652
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252521.1:p.Ser813Phe
CA561220
NM_001265592.1:c.2438C>T