Canonical Allele Identifier: PA2827090300
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260879
ClinVar RCV Id: RCV000243397 RCV000665282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Thr152Ala
CA8669296
NM_001321268.1:c.454A>G