Canonical Allele Identifier: PA658805062
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535949
ClinVar RCV Id: RCV000644185 RCV003162914 RCV004004011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1170Leu
CA394289260
NM_000548.5:c.3509C>T