Canonical Allele Identifier: PA658830022
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Gly255Arg
CA8669413
NM_017777.4:c.763G>C
CA8669415
NM_017777.4:c.763G>A