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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000482968.1:p.[Lys2710_Ser2719delinsAsnTyrTyrLeu;Arg2721del;Ser2723_Cys2725delinsPhePhe;Asn2728_Val2736delinsPro;Glu2738_Ser2740delinsPhe]
CA913090804
ENST00000613296.6:c.8130_8131del