Canonical Allele Identifier: PA2827090415
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217672

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Ser200Leu
CA210326
NM_001321268.1:c.599C>T