ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023160
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50015
ClinVar RCV Id:
RCV000043283
RCV000537246
RCV003162359
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg996Cys
CA019506
NM_001318831.2:c.2986C>T