ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826485862
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297980
ClinVar RCV Id:
RCV000286017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg77Cys
CA562044
NM_001265593.1:c.229C>T