Canonical Allele Identifier: PA2828411320
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774028
ClinVar RCV Id: RCV002389945 RCV003512169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp501Asn
CA394326047
NM_001370404.1:c.1501G>A