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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.[Arg376_Lys379delinsHisAsnSerArg;Trp381Ile;Gly383Phe;Gln385_Asn389del;Leu391_Lys395del;Phe397_Lys398del;Leu400_Thr407del;Glu409del;Lys412_Ser413delinsAla]
CA2750467830
ENST00000651057.1:c.1127_1151del