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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508222.1:p.[Arg3531_Lys3534delinsHisAsnSerArg;Trp3536Ile;Gly3538Phe;Gln3540_Asn3544del;Leu3546_Lys3550del;Phe3552_Lys3553del;Leu3555_Thr3562del;Glu3564del;Lys3567_Ser3568delinsAla]
CA2750467830
ENST00000682859.1:c.10592_10616del