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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.[Gln48_Gly52del;Phe54del;Gly56del;Thr58_Ile60delinsGlu;Pro62_Met66delinsThr;His70_Arg78delinsProPro]
CA2587804945
NM_001972.4:c.144del