ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439657
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468155
ClinVar RCV Id:
RCV000547303
RCV000570898
RCV003403303
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1700Val
CA054998
NM_001077183.3:c.5098C>G