Canonical Allele Identifier: PA2829881935
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038597
ClinVar RCV Id: RCV001341926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Ala531Asp
CA8669068
NM_017777.4:c.1592C>A