Canonical Allele Identifier: PA658816888
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499986
ClinVar RCV Id: RCV000598192 RCV001087688 RCV001823737 RCV001829657
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Asp405Asn
CA8669230
NM_017777.4:c.1213G>A