Canonical Allele Identifier: PA2828421291
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318335
ClinVar RCV Id: RCV000340816 RCV000475549 RCV002338902
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1601Asn
CA053097
NM_001370405.1:c.4801G>A