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Canonical Allele Identifier: Get Identifier
Gene: PEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000457.1:p.[Ile700_Met702delinsTyrLeuHis;Ser704_Thr711delinsLysPheGlyCysThrAspCysHisLys;Gln713Val;Gln715_Gln716delinsAlaIle;Leu718_His729delinsThrSerPheThrCysPheCysSerArgSerSer]
CA213121
NM_000466.3:c.2097dup