Canonical Allele Identifier: PA2828419266
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318325
ClinVar RCV Id: RCV000402137 RCV000698685 RCV003298377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu1023Phe
CA10648022
NM_001370405.1:c.3067C>T