Canonical Allele Identifier: PA2828419649
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_001357334.1:p.Ser1127Leu
CA394289260
NM_001370405.1:c.3380C>T