Canonical Allele Identifier: PA2828420641
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238048
ClinVar RCV Id: RCV000226937 RCV000422566 RCV002315686 RCV003390985 RCV003998828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser1423Leu
CA051016
NM_001370405.1:c.4268C>T