ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439315
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207758
ClinVar RCV Id:
RCV000190039
RCV001084596
RCV002336507
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Cys1613Tyr
CA053573
NM_001077183.3:c.4838G>A