Canonical Allele Identifier: PA2828421181
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49325
ClinVar RCV Id: RCV000042585 RCV000201210 RCV001283509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ile1571del
CA021081
NM_001370405.1:c.4713_4715del