Allele Registry

Canonical Allele Identifier: PA356204

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000206374

RCV000664903

RCV001271767

RCV004530224

ClinVar Variation:

220047

HGVS (amino-acid)	Matching Registered Transcripts
NP_060247.2:p.Arg537Cys	CA350413 NM_017777.4:c.1609C>T