Canonical Allele Identifier: PA2827008602
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406099
ClinVar RCV Id: RCV000473877 RCV001020177 RCV000509526 RCV001584141 RCV004000718 RCV003463869
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Met1039Val
CA16614772
NM_001318829.2:c.3115A>G