ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573190184
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375887
ClinVar RCV Id:
RCV001885607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Leu392Ile
CA338133526
NM_001265593.1:c.1174C>A