ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980804
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486632
ClinVar RCV Id:
RCV000568648
RCV000644236
RCV001558891
RCV002476253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Gln1376Arg
CA050713
NM_021055.3:c.4127A>G