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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508222.1:p.[Glu3872_Gln3880delinsSerHisCysGlySerArgThrValArg;Gln3882_Asp3885delinsSerThrTrpThrVal;Arg3887_Leu3890delinsAlaThrTrpGln;Gly3892_Gly3894delinsGlnAlaGlu;Glu3896Leu;Gly3898_Leu3901delinsGluThrTyr]
CA2659621092
ENST00000682859.1:c.11614del