Canonical Allele Identifier: PA2573066924
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 139589
ClinVar RCV Id: RCV000128530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165558.2:p.Cys247Arg
CA163284
NM_001172087.2:c.739T>C