ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210281
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159399.1:p.Arg155Cys
CA210278
NM_001165927.1:c.463C>T