ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915985930
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg99Cys
CA561996
NM_001265593.1:c.295C>T