Canonical Allele Identifier: PA2828418417
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237986
ClinVar RCV Id: RCV000230681 RCV002315685 RCV002261015 RCV003998813
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser758Cys
CA10583307
NM_001370405.1:c.2273C>G