Canonical Allele Identifier: PA2573185852
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349831
ClinVar RCV Id: RCV002051165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165558.2:p.Cys184Leu
CA2573143377
NM_001172087.2:c.550_551delinsCT