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Canonical Allele Identifier: Get Identifier
Gene: ELAC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000337445.4:p.[Leu770_Arg782delinsValCysTrpArgHisArgGlyAspGlyGlyAlaGlnGly;Lys784_Leu799delinsAlaGlyAlaAlaAlaGlyAlaGlyGlyProProValGlnGlyAlaGly]
CA8400837
ENST00000338034.9:c.2308_2309del