Canonical Allele Identifier: PA2827090702
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 593886
ClinVar RCV Id: RCV000729054 RCV002533097 RCV004535817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Arg330Cys
CA8669066
NM_001321268.1:c.988C>T