Canonical Allele Identifier: PA2828416069
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207787
ClinVar RCV Id: RCV000367424 RCV000470663 RCV000565361 RCV001721240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.His76Tyr
CA038111
NM_001370405.1:c.226C>T