Canonical Allele Identifier: PA2573170395
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420522
ClinVar RCV Id: RCV001943559 RCV004044064
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1536His
CA051927
NM_000548.5:c.4608G>C
CA394304686
NM_000548.5:c.4608G>T