Allele Registry

Canonical Allele Identifier: PA2827091665

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000598192

RCV001087688

RCV001823737

RCV001829657

ClinVar Variation:

499986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308198.1:p.Asp405Asn	CA8669230 NM_001321269.1:c.1213G>A