ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830458046
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429408
ClinVar RCV Id:
RCV000493291
RCV002446960
RCV001070725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_941374.3:p.Thr769Met
CA17234404
NM_198681.4:c.2306C>T