ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667262
Gene: PLEKHG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065682.2:p.Arg673Cys
NM_020631.6:c.2017C>T