Canonical Allele Identifier: PA2830457983
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194979
ClinVar RCV Id: RCV000175472 RCV000320159 RCV001510604 RCV001721107
ClinVar Variation Id: 2501239
ClinVar RCV Id: RCV003226836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_941374.3:p.Glu723del
CA17234893
NM_198681.4:c.2160_2163delinsA
CA1151520207
NM_198681.4:c.2168_2170del