Canonical Allele Identifier: PA645432489
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406123
ClinVar RCV Id: RCV000456253 RCV002451090 RCV004000723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Met788Ile
CA038757
NM_000548.5:c.2364G>A
CA394276962
NM_000548.5:c.2364G>C
CA394276964
NM_000548.5:c.2364G>T