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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000442096.2:p.[Pro543_Ser544insLeuGluProTrp;Gly545_Leu547delinsProSerSerGlnGlnProTrpProThr;Ser549delinsGlnGluAspLysMetGlyAspIle]
CA2838231695
ENST00000537529.6:c.1629del