Allele Registry

Canonical Allele Identifier: PA2827090584

Gene: MKS1 HGNC NCBI

ClinVar Allele:

208403

ClinVar RCV:

RCV000193368

RCV000224657

RCV001082508

RCV001128312

RCV001128313

ClinVar Variation:

211502

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308197.1:p.Arg276His	CA206807 NM_001321268.1:c.827G>A