ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825417672
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246359
ClinVar RCV Id:
RCV000236991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036130.1:p.Ala950Ser
CA10584152
NM_001042665.1:c.2848G>T