ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915985123
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252521.1:p.Pro249Leu
CA561829
NM_001265592.1:c.746C>T