Canonical Allele Identifier: PA913197684
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597924
ClinVar RCV Id: RCV000734184 RCV001126362 RCV001126363 RCV002535372 RCV003258955 RCV004535875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.His271Gln
CA8669401
NM_017777.4:c.813C>A
CA400326420
NM_017777.4:c.813C>G