Canonical Allele Identifier: PA2825181210
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1774028
ClinVar RCV Id: RCV002389945 RCV003512169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp501Asn
CA394326047
NM_000548.5:c.1501G>A