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Canonical Allele Identifier: Get Identifier
Gene: PEX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000394413.1:p.[Ser1095_Leu1113delinsCysThrLysLeuHisAspSerGlyPheAlaTrpSerSerTrpGluArgProValVal;Ser1115_Pro1118delinsThrAlaSerSer;Leu1120_Gln1125delinsLysAspSerPheThr]
CA4340813
ENST00000428214.5:c.3284_3285del