Canonical Allele Identifier: PA2827011147
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406006
ClinVar RCV Id: RCV000571306 RCV000460751 RCV004000693 RCV003470408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val485Gly
CA16615042
NM_001318829.2:c.1454T>G