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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.[Ala233del;Val235_Asn240delinsArg;Ile242_Asp243delinsHis;Ile245_Pro262delinsLeu]
CA2695227824
ENST00000590230.5:c.697del