Canonical Allele Identifier: PA2580413180
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2474046
ClinVar RCV Id: RCV003198180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Arg22His
CA400328130
NM_017777.4:c.65G>A