Canonical Allele Identifier: PA2827091658
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217672
ClinVar RCV Id: RCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV000984286 RCV001853235 RCV003230449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Ser403Leu
CA210326
NM_001321269.1:c.1208C>T