Canonical Allele Identifier: PA2827019432
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231318
ClinVar RCV Id: RCV000216974 RCV000644390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asp1271Glu
CA10579897
NM_001318832.2:c.3813C>G
CA394297611
NM_001318832.2:c.3813C>A