Canonical Allele Identifier: PA346870
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159399.1:p.Asp61Glu
CA346867
NM_001165927.1:c.183C>G
CA400327796
NM_001165927.1:c.183C>A