ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830457984
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_941374.3:p.Glu722_Glu723del
CA2695253119
NM_198681.4:c.2165_2170del