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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507421.1:p.[Lys2583_Ser2592delinsAsnTyrTyrLeu;Arg2594del;Ser2596_Cys2598delinsPhePhe;Asn2601_Val2609delinsPro;Glu2611_Ser2613delinsPhe]
CA913090804
ENST00000684548.1:c.7749_7750del