Allele Registry

Canonical Allele Identifier: PA334642

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000168353

RCV000665745

ClinVar Variation:

188334

HGVS (amino-acid)	Matching Registered Transcripts
NP_060247.2:p.Ile78Ser	CA334638 NM_017777.4:c.233T>G