Canonical Allele Identifier: PA645434545
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406115
ClinVar RCV Id: RCV000472949 RCV002256249 RCV004000721 RCV003237849
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1470His
CA16614762
NM_000548.5:c.4409G>A