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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000482968.1:p.[Glu3999_Gln4007delinsSerHisCysGlySerArgThrValArg;Gln4009_Asp4012delinsSerThrTrpThrVal;Arg4014_Leu4017delinsAlaThrTrpGln;Gly4019_Gly4021delinsGlnAlaGlu;Glu4023Leu;Gly4025_Leu4028delinsGluThrTyr]
CA2659621092
ENST00000613296.6:c.11995del