Canonical Allele Identifier: PA2827090703
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183012
ClinVar RCV Id: RCV000161135 RCV000324288 RCV001082780 RCV001252740 RCV001272920 RCV001797645 RCV002467638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Arg331Gln
CA273756
NM_001321268.1:c.992G>A