Allele Registry

Canonical Allele Identifier: PA2827090898

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000724912

RCV000765374

RCV001062255

RCV001274930

RCV001820805

RCV004535260

ClinVar Variation:

281544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308198.1:p.His40Tyr	CA8669639 NM_001321269.1:c.118C>T