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Canonical Allele Identifier: Get Identifier
Gene: ELAC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159434.1:p.[Leu730_Arg742delinsValCysTrpArgHisArgGlyAspGlyGlyAlaGlnGly;Lys744_Leu759delinsAlaGlyAlaAlaAlaGlyAlaGlyGlyProProValGlnGlyAlaGly]
CA8400837
NM_001165962.2:c.2188_2189del