Canonical Allele Identifier: PA2828410224
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49319
ClinVar RCV Id: RCV000042579 RCV000518124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu160Val
CA021005
NM_001370404.1:c.478C>G