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Canonical Allele Identifier: Get Identifier
Gene: PRPF8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.[Phe2317delinsCysSerPro;Ala2318_Leu2319insGlyGlyGlyGly;Gln2321_Glu2322delinsCysGlySer;Glu2324delinsGlyPro;Tyr2326_Tyr2334delinsCysLeuThrValSerLeuProProAlaSer;Ala2335_Ter2336insSerArg]
CA2695224073
NM_006445.4:c.6950_6951del