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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.[Gly221_Ser225delinsGluAlaAlaProGln;Leu227_Tyr228delinsSerThr;Asp230_Ala233delinsMetProLeu;Val235_Asn240delinsArg;Ile242_Asp243delinsHis;Ile245_Glu250delinsLeu]
CA2695227820
ENST00000590230.5:c.662del