ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825417348
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194553
ClinVar RCV Id:
RCV000310703
RCV000645414
RCV000724398
RCV001001707
RCV002399633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036130.1:p.Ala539Val
CA240587
NM_001042665.1:c.1616C>T