Canonical Allele Identifier: PA2827020178
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486640
ClinVar RCV Id: RCV000565969 RCV001859979
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asp1479Glu
CA394304645
NM_001318832.2:c.4437C>A
CA394304655
NM_001318832.2:c.4437C>G