Canonical Allele Identifier: PA2828421547
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468141
ClinVar RCV Id: RCV000543917 RCV002350297 RCV003999325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1668Leu
CA394312457
NM_001370405.1:c.5002G>C
CA394312460
NM_001370405.1:c.5002G>T