ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979181
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486630
ClinVar RCV Id:
RCV000573474
RCV000644372
RCV001722537
RCV004001154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1131Gln
CA047301
NM_021055.3:c.3392G>A