ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499283682
Gene: MKS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060247.2:p.Leu103Ser
CA8669568
NM_017777.4:c.308T>C