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Canonical Allele Identifier: Get Identifier
Gene: ELANE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000466090.1:p.[Val82_Leu89delinsCysGlyTrpSerTrpGluProIleThr;Arg92_Pro111delinsGlyGlySerProProGlyArgCysSerProCysSerAlaSerSerLysThrAlaThrThr]
CA2587805073
ENST00000590230.5:c.239_243dup