Canonical Allele Identifier: PA2827091346
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 638836
ClinVar RCV Id: RCV000791492

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308198.1:p.Tyr263His
CA400326471
NM_001321269.1:c.787T>C