Canonical Allele Identifier: PA2825120254
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 556544
ClinVar RCV Id: RCV000672565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000309.2:p.Leu305_Ter306insGlnLysLeuLysLeuLeuProLeuArgLysLysMetHisArgVal
CA371556285
NM_000318.3:c.916T>C