ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334641
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159399.1:p.Ile68Ser
CA334638
NM_001165927.1:c.203T>G