ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827021030
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536110
ClinVar RCV Id:
RCV001023842
RCV001513329
RCV004004052
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala1703Val
CA054932
NM_001318832.2:c.5108C>T