Canonical Allele Identifier: PA319599
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207785
ClinVar RCV Id: RCV000190079 RCV000695662 RCV001022271 RCV003462296 RCV003996900
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1438Trp
CA050835
NM_000548.5:c.4312C>T