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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.[Leu3884_Arg3887delinsTrpThrVal;Tyr3889_Leu3890del;Gly3892_Glu3896delinsThrTrpGlnAlaGln;Gly3898Glu;Asp3900del;Leu3902_Ala3908delinsAlaGlu;Leu3910_Ser3913delinsTyr]
CA2586969572
ENST00000682859.1:c.11650del