Allele Registry

Canonical Allele Identifier: PA2827090417

Gene: MKS1 HGNC NCBI

ClinVar Allele:

491410

ClinVar RCV:

RCV000598192

RCV001087688

RCV001823737

RCV001829657

ClinVar Variation:

499986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308197.1:p.Asp202Asn	CA8669230 NM_001321268.1:c.604G>A