Canonical Allele Identifier: PA251780
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159399.1:p.Cys482Trp
CA251777
NM_001165927.1:c.1446T>G
CA2580573370
NM_001165927.1:c.[1446T>G;1085_1087del]