Allele Registry

Canonical Allele Identifier: PA2827090987

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000168353

RCV000665745

ClinVar Variation:

188334

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308198.1:p.Ile78Ser	CA334638 NM_001321269.1:c.233T>G