Canonical Allele Identifier: PA2827091164
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217682
ClinVar RCV Id: RCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Arg165Cys
CA210278
NM_001321269.1:c.493C>T