ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174150
Gene: PLEKHG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161500
ClinVar RCV Id:
RCV000149034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025055.1:p.Arg765Trp
CA174149
NM_001029884.1:c.2293C>T