ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826486689
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1369294
ClinVar RCV Id:
RCV001870558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252523.1:p.Asp479Asn
CA338126958
NM_001265594.2:c.1435G>A