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Canonical Allele Identifier: Get Identifier
Gene: PEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000410438.1:p.[Glu293_Cys307delinsLysHisLeuThrAsnTrpMetProMetTrpArgGluLeuThrVal;Ala309_Gly312delinsLeuTyrGluGlu;Arg314Gly;Glu316_Gln319delinsLysThrTyrLys;Thr321_Leu322delinsPro]
CA4341278
ENST00000438045.5:c.876del