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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.[Pro350_Ser351insLeuGluProTrp;Gly352_Leu354delinsProSerSerGlnGlnProTrpProThr;Ser356delinsGlnGluAspLysMetGlyAspIle]
CA2838231695
NM_001321268.1:c.1050del