ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101184
Gene: PLEKHG5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_941374.2:p.Arg261His
NM_198681.3:c.782G>A