Canonical Allele Identifier: PA2827090487
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Glu241_Phe246delinsVal
CA658823777
NM_001321268.1:c.722_736del