Canonical Allele Identifier: PA2827311036
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_001317326.1:p.Thr355Ala
CA8669296
NM_001330397.2:c.1063A>G