Canonical Allele Identifier: PA658659903
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486570
ClinVar RCV Id: RCV000573969 RCV000698607
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala1129Val
CA036688
NM_000368.5:c.3386C>T