Canonical Allele Identifier: PA2573101196
Gene: PLEKHG5 HGNC NCBI
ClinVar RCV:
RCV000695861
ClinVar Variation:
574034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_941374.3:p.Ala978Val
CA17233211
NM_198681.4:c.2933C>T