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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Ser559_Ter560insTyrLeuThrAlaAlaLeuAlaHisSerAlaArgGlyGlnAspGlyGlyTyrLeuArgProValLeuSerCysLeuPheValPheLeuIleArgAspHisValGlyLeuLeuArgThrArgLysAlaGlyLysPheProAlaGlyProSerAla
CA400324151
NM_017777.4:c.1680G>T
CA400324152
NM_017777.4:c.1680G>C