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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503852.1:p.[Asp19_Thr34delinsAlaGlyThrProCysAlaThrCysAlaSerGluSerThrCysLysGlu;Ser36_Asn37delinsHisGlnAlaThr;Leu39_Leu47delinsPheIleIleSerLeuLeuProSerSer]
CA344763
ENST00000677486.1:c.51_55dup