Canonical Allele Identifier: PA2828417577
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237969
ClinVar RCV Id: RCV000226536 RCV002282073 RCV002399815 RCV003998805
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser538Phe
CA10583296
NM_001370405.1:c.1613C>T