Canonical Allele Identifier: PA2827310876
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Gly255Arg
CA8669413
NM_001330397.2:c.763G>C
CA8669415
NM_001330397.2:c.763G>A