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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.[Tyr2228_Pro2232del;Gly2234_Pro2253del;His2255_Glu2257del]
CA2576113179
ENST00000572621.5:c.6683del