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Canonical Allele Identifier: Get Identifier
Gene: ELAC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000405223.3:p.[Arg784delinsSerProValLysIleTrpGluThrLeuAsnSerGluGlyCysValSerSer;Gln786delinsProArgThrHisProTyrLeuProSerLeuLeuVal]
CA2580612852
ENST00000426905.7:c.2352_2353del