ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829943013
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1748618
ClinVar RCV Id:
RCV002344947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065682.2:p.Ala187Val
CA338138487
NM_020631.6:c.560C>T