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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.[Leu196_Ser197delinsArgVal;Asn199_Ile206delinsIleCysCysArgArgLeu;Val208_Val214delinsTyr;Glu216_Asn218del;Glu220_Asp223del;Ile225del]
CA2580078165
ENST00000438045.5:c.586_587delinsA