ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573068131
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297940
ClinVar RCV Id:
RCV001753757
RCV000348442
RCV000538204
RCV002429249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg917Gln
CA561139
NM_001265593.1:c.2750G>A