ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830458096
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297941
ClinVar RCV Id:
RCV000522669
RCV001083084
RCV002429250
RCV000390391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_941374.3:p.Asp829Tyr
CA561148
NM_198681.4:c.2485G>T