Canonical Allele Identifier: PA2825156174
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421705
ClinVar RCV Id: RCV001917061 RCV004044122
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu330Arg
CA375368602
NM_000368.5:c.989T>G