Canonical Allele Identifier: PA2825184651
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2449956
ClinVar RCV Id: RCV003171890 RCV003778996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr1057Asn
CA394285444
NM_000548.5:c.3170C>A