Allele Registry

Canonical Allele Identifier: PA916028112

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000201670

RCV000241545

RCV000414929

RCV000665372

RCV000691391

RCV001197092

RCV001272923

ClinVar Variation:

217677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317326.1:p.Ser372del	CA210292 NM_001330397.2:c.1115_1117del