Canonical Allele Identifier: PA334642
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188334
ClinVar RCV Id: RCV000168353 RCV000665745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Ile78Ser
CA334638
NM_017777.4:c.233T>G