Canonical Allele Identifier: PA645436495
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406110
ClinVar RCV Id: RCV000471307 RCV004022585
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1757Asp
CA16614803
NM_000548.5:c.5271A>C
CA394315121
NM_000548.5:c.5271A>T