Allele Registry

Canonical Allele Identifier: PA2827091901

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000206374

RCV000664903

RCV001271767

RCV004530224

ClinVar Variation:

220047

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308198.1:p.Ala509Val	CA350413 NM_001321269.1:c.1526C>T