Allele Registry

Canonical Allele Identifier: PA645413915

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000285730

RCV000335464

RCV000400230

RCV000514906

RCV001083793

RCV001094550

ClinVar Variation:

286884

HGVS (amino-acid)	Matching Registered Transcripts
NP_060247.2:p.Arg463Gln	CA8669152 NM_017777.4:c.1388G>A