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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503999.1:p.Ser516_Ter517insLeuLeuThrAlaAlaLeuAlaHisSerAlaArgGlyGlnAspGlyGlyTyrLeuArgProValLeuSerCysLeuPheValPheLeuIleArgAspHisValGlyLeuLeuArgThrArgLysAlaGlyLysPheProAlaGlyProSerAla
CA400324153
ENST00000676787.1:c.1550A>T