Canonical Allele Identifier: PA206811
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211502
ClinVar RCV Id: RCV000193368 RCV000224657 RCV001082508 RCV001128312 RCV001128313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Arg479His
CA206807
NM_017777.4:c.1436G>A