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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000479094.1:p.[Arg3658_Lys3661delinsHisAsnSerArg;Trp3663Ile;Gly3665Phe;Gln3667_Asn3671del;Leu3673_Lys3677del;Phe3679_Lys3680del;Leu3682_Thr3689del;Glu3691del;Lys3694_Ser3695delinsAla]
CA2750467830
ENST00000614410.4:c.10973_10997del