Canonical Allele Identifier: PA2827004593
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000546695
ClinVar Variation:
468092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln1400Arg
CA394302741
NM_001318827.2:c.4199A>G