Canonical Allele Identifier: PA2827090723
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220047
ClinVar RCV Id: RCV000664903 RCV000206374 RCV004530224 RCV001271767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Arg334Cys
CA350413
NM_001321268.1:c.1000C>T