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Canonical Allele Identifier: Get Identifier
Gene: ELANE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000263621.1:p.[Thr266_His267insThrGluLysGlyCysProGly;His267_Ter268insLeuSerCysProHisProHisSerProAlaSerGlyThrIleAsnIleLeuCysPheVal]
CA2587805476
ENST00000263621.2:c.799del