Canonical Allele Identifier: PA2827311105
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217672
ClinVar RCV Id: RCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV000984286 RCV001853235 RCV003230449
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Ser403Leu
CA210326
NM_001330397.2:c.1208C>T