ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020235
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1000977
ClinVar RCV Id:
RCV001297190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val1494Phe
CA394305002
NM_001318832.2:c.4480G>T