Canonical Allele Identifier: PA2825157099
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2496830
ClinVar RCV Id: RCV003216407
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Glu731Val
CA375360646
NM_000368.5:c.2192A>T