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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000442096.3:p.Ser416_Ter417insLysLeuThrAlaAlaLeuAlaHisSerAlaArgGlyGlnAspGlyGlyTyrLeuArgProValLeuSerCysLeuPheValPheLeuIleArgAspHisValGlyLeuLeuArgThrArgLysAlaGlyLysPheProAlaGlyProSerAla
CA400324156
ENST00000537529.7:c.1249T>A