ClinGen Allele Registry
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Canonical Allele Identifier:
PA915985941
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426958
ClinVar RCV Id:
RCV000490184
RCV000560252
RCV002438195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg999Gln
CA561092
NM_001265593.1:c.2996G>A