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Canonical Allele Identifier: Get Identifier
Gene: ELANE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.[Phe199_Asp201delinsLeuSerVal;Ser204Thr;Leu206_Ala216delinsAlaAlaProTrp;Phe218_Cys223del;Ser225Thr;Leu227_Tyr228del]
CA2695227805
NM_001972.4:c.589_596dup