Canonical Allele Identifier: PA319394
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207690
ClinVar RCV Id: RCV000189938 RCV000575063 RCV001088052 RCV003996871
ClinVar Variation Id: 952882
ClinVar RCV Id: RCV001225081 RCV004032529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Phe1666Leu
CA053452
NM_000548.5:c.4998C>A
CA394310978
NM_000548.5:c.4996T>C
CA394310991
NM_000548.5:c.4998C>G