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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507376.1:p.[Gln2060_Gln2064delinsArgAsnArgPheSer;His2066_Pro2068delinsThr;Phe2070_Ile2071delinsLeuThr;Arg2073del;Gly2075_Arg2080delinsProAla;Lys2082_Lys2089delinsGlySerGly]
CA2750469792
ENST00000684590.1:c.6178del