Canonical Allele Identifier: PA2829881590
Gene: MKS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060247.2:p.Val283Leu
CA292012776
NM_017777.4:c.847G>C
CA400326353
NM_017777.4:c.847G>T