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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515363.1:p.[Leu2270_Glu2277delinsSerThrLeuLeuSerCysArgArg;Glu2279_Ala2290delinsArgPheThrLeuArgIleGlyArgThrCysMetPro]
CA2695224074
ENST00000703541.1:c.6808del