Canonical Allele Identifier: PA2827310552
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 461764
ClinVar RCV Id: RCV000538877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Arg22Ser
CA292016708
NM_001330397.2:c.64C>A