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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000478155.1:p.[Gln3996_Gln4000delinsArgAsnArgPheSer;His4002_Pro4004delinsThr;Phe4006_Ile4007delinsLeuThr;Arg4009del;Gly4011_Arg4016delinsProAla;Lys4018_Lys4025delinsGlySerGly]
CA2750469792
ENST00000484298.5:c.11986del