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Canonical Allele Identifier: Get Identifier
Gene: PEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269606.1:p.[Glu269_Phe273delinsAsnGlnCysIleGln;Asn275_Ser278delinsTyrAlaVal;Val280_Ile286delinsGlyCysSerSerArgGlnTyr;Arg288_Ser292delinsGlnSerMet;Pro294_Pro295delinsIle;Ile297_Tyr298delinsThrSer]
CA2580077837
NM_001282677.2:c.805_806del