Canonical Allele Identifier: PA658830035
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Glu444_Phe449delinsVal
CA658823777
NM_017777.4:c.1331_1345del