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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460348.1:p.[Ser2327_Ala2328insCysGlySerGlyGlyProValCysLeuThrValSerLeuProPro;Asp2329delinsSerAlaSer;Glu2331_Asp2332delinsGlyArgSer;Tyr2334delinsSerProSerArgGln]
CA2695224069
ENST00000572621.5:c.6981dup