Canonical Allele Identifier: PA2827090499
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281123
ClinVar RCV Id: RCV000280753 RCV001003078 RCV001087577 RCV001128316 RCV001578757 RCV001820804 RCV001122598 RCV004542971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Ile247Thr
CA8669161
NM_001321268.1:c.740T>C