ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413929
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159399.1:p.Arg98His
CA8669565
NM_001165927.1:c.293G>A