Note: Currently, ClinGen Allele Registry only supports Gene symbol and c./p. queries for coding (e.g. Gene: STK11, Type=c., Position: 26 Reference Allele: T Alternate Allele: C), intronic (e.g. Gene: STK11, Type:c., Position:374+1, Reference Allele:A, and Alternate Allele:G), and, upstream (Gene:STK11, Type:c., Position:-723, Reference Allele: G Alternate Allele: T) substitutions. We are actively developing support for such queries for other types of variations.

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