Canonical Allele Identifier: PA2826486249
Gene: PLEKHG5 HGNC NCBI
ClinVar RCV:
RCV000695861
ClinVar Variation:
574034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001252522.1:p.Ala1047Val
CA17233211
NM_001265593.1:c.3140C>T