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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498504.1:p.[Glu717_Gln725delinsSerHisCysGlySerArgThrValArg;Gln727_Asp730delinsSerThrTrpThrVal;Arg732_Leu735delinsAlaThrTrpGln;Gly737_Gly739delinsGlnAlaGlu;Glu741Leu;Gly743_Leu746delinsGluThrTyr]
CA2659621092
ENST00000651057.1:c.2149del