Allele Registry

Canonical Allele Identifier: PA2827090969

Gene: MKS1 HGNC NCBI

ClinVar RCV:

RCV000177294

RCV000351197

RCV000399365

RCV000514445

RCV001079449

RCV004528943

ClinVar Variation:

196477

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308198.1:p.Asp71Glu	CA346867 NM_001321269.1:c.213C>G CA400327796 NM_001321269.1:c.213C>A