Canonical Allele Identifier: PA2828418651
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41732
ClinVar RCV Id: RCV000034649 RCV000054857 RCV000163390 RCV000176271 RCV000989426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu826Met
CA017492
NM_001370405.1:c.2476C>A