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Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.[Gln4038_Gln4042delinsArgAsnArgPheSer;His4044_Pro4046delinsThr;Phe4048_Ile4049delinsLeuThr;Arg4051del;Gly4053_Arg4058delinsProAla;Lys4060_Lys4067delinsGlySerGly]
CA2750469792
NM_001378454.1:c.12112del