ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573068154
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468916
ClinVar RCV Id:
RCV000555958
RCV001568993
RCV003962537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Pro239Leu
CA561829
NM_001265593.1:c.716C>T