Canonical Allele Identifier: PA645413789
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281544
ClinVar RCV Id: RCV000765374 RCV001274930 RCV001820805 RCV000724912 RCV004535260 RCV001062255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.His40Tyr
CA8669639
NM_017777.4:c.118C>T