ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573068195
Gene: PLEKHG5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001074
RCV000790140
ClinVar Variation:
1019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Phe716Ser
CA114710
NM_001265593.1:c.2147T>C