Canonical Allele Identifier: PA2825157016
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679302
ClinVar RCV Id: RCV003474194
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln701Arg
CA375361049
NM_000368.5:c.2102A>G