ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830457530
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246293
ClinVar RCV Id:
RCV000236140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_941374.3:p.Arg184His
CA561812
NM_198681.4:c.551G>A