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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Ser356_Ter357insGluLeuThrAlaAlaLeuAlaHisSerAlaArgGlyGlnAspGlyGlyTyrLeuArgProValLeuSerCysLeuPheValPheLeuIleArgAspHisValGlyLeuLeuArgThrArgLysAlaGlyLysPheProAlaGlyProSerAla
CA400324158
NM_001321268.1:c.1069T>G