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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000462411.1:p.[Asp19_Pro31delinsAlaGlyThrProCysAlaThrCysAlaSerGlyGlyHis;Gly33_Trp42delinsProGluGluAspGluGluGluGluIle;Ala44Ile;Gly45_Glu46insTrpGln;Ala47Lys;Leu48_Ter49insPhe]
CA344763
ENST00000578789.1:c.51_55dup