Canonical Allele Identifier: PA658830022
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 546082
ClinVar RCV Id: RCV000657869 RCV000695711 RCV001526426 RCV001578717 RCV001272928 RCV004533438
ClinVar Variation Id: 1343684
ClinVar RCV Id: RCV001844701
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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