Canonical Allele Identifier: PA319389
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207684
ClinVar RCV Id: RCV000934634 RCV001022397 RCV001427433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr1462Ser
CA051006
NM_000548.5:c.4385C>G
CA394301849
NM_000548.5:c.4384A>T