ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413850
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060247.2:p.Val182Ile
CA8669471
NM_017777.4:c.544G>A