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Canonical Allele Identifier: Get Identifier
Gene: ELAC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000379291.1:p.[Leu751_Arg763delinsValCysTrpArgHisArgGlyAspGlyGlyAlaGlnGly;Lys765_Leu780delinsAlaGlyAlaAlaAlaGlyAlaGlyGlyProProValGlnGlyAlaGly]
CA8400837
ENST00000395962.6:c.2251_2252del