Allele Registry

Canonical Allele Identifier: PA2827090539

Gene: MKS1 HGNC NCBI

ClinVar Allele:

271121

ClinVar RCV:

RCV000285730

RCV000335464

RCV000400230

RCV000514906

RCV001083793

RCV001094550

ClinVar Variation:

286884

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308197.1:p.Arg260Gln	CA8669152 NM_001321268.1:c.779G>A