Canonical Allele Identifier: PA916024939
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308197.1:p.Gly52Arg
CA8669413
NM_001321268.1:c.154G>C
CA8669415
NM_001321268.1:c.154G>A